ClinVar Miner

Submissions for variant NM_001163809.2(WDR81):c.2266C>T (p.Arg756Trp)

gnomAD frequency: 0.00036  dbSNP: rs536486423
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732085 SCV000859990 likely benign not specified 2018-03-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000974368 SCV001122189 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002535254 SCV003750572 likely benign Inborn genetic diseases 2022-01-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics RCV000974368 SCV005217913 likely benign not provided criteria provided, single submitter not provided

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