ClinVar Miner

Submissions for variant NM_001163809.2(WDR81):c.3528C>T (p.Thr1176=)

gnomAD frequency: 0.00129  dbSNP: rs148375698
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000883300 SCV001026595 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000883300 SCV004145549 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing WDR81: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000883300 SCV005251994 benign not provided criteria provided, single submitter not provided

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