ClinVar Miner

Submissions for variant NM_173495.3(PTCHD1):c.1494C>T (p.Thr498=)

gnomAD frequency: 0.00048  dbSNP: rs138676073
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177420 SCV000229276 benign not specified 2014-12-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312724 SCV000846287 likely benign Inborn genetic diseases 2016-04-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV000904211 SCV001048719 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000904211 SCV001781703 likely benign not provided 2020-03-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000177420 SCV002066221 benign not specified 2018-04-17 criteria provided, single submitter clinical testing

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