Reporting Gaps in Interpretation Updates
One limitation to our analysis of the HCI variant dictionary in relation
to ClinVar is that we do not account for reporting gaps. For example,
consider the gap in laboratory updates to ClinVar records. Updates occur
at different frequencies (quarterly, annually, etc.) depending on the
laboratory. A laboratory may have sent an updated interpretation to HCI
that has not yet been propagated to ClinVar and this may have caused an
interpretation conflict. Additionally, there are possible gaps from HCI
between when a variant reclassification notification is received and
when the variant review team can meet to discuss the update. In summary,
these cross-sectional snapshots may be reflecting discrepancies that are
already known and being processed.