ClinVar Miner

Submissions for variant NM_001163809.2(WDR81):c.5205G>A (p.Pro1735=)

gnomAD frequency: 0.00056  dbSNP: rs148281999
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000914486 SCV001059664 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000914486 SCV001961646 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing WDR81: BP4, BP7

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