ClinVar Miner

Submissions for variant NM_173495.3(PTCHD1):c.657C>T (p.Asn219=)

gnomAD frequency: 0.00181  dbSNP: rs144982584
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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) RCV000175998 SCV000227578 likely benign not specified 2014-06-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000175998 SCV000596612 benign not specified 2017-08-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317019 SCV000849560 benign Inborn genetic diseases 2017-03-30 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV000888781 SCV001032434 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000888781 SCV001914214 benign not provided 2019-04-16 criteria provided, single submitter clinical testing

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