ClinVar Miner

Submissions for variant NM_173495.3(PTCHD1):c.2041G>A (p.Val681Ile)

gnomAD frequency: 0.00002  dbSNP: rs150912089
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177419 SCV000229275 uncertain significance not provided 2016-02-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317035 SCV000850212 likely benign Inborn genetic diseases 2017-02-08 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.
CeGaT Center for Human Genetics Tuebingen RCV000177419 SCV004166759 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing PTCHD1: BS2

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