ClinVar Miner

Submissions for variant NM_173495.3(PTCHD1):c.858T>C (p.Cys286=)

gnomAD frequency: 0.67668  dbSNP: rs5926304
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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) RCV000082701 SCV000114745 benign not specified 2013-08-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311742 SCV000846140 benign Inborn genetic diseases 2016-03-16 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.
GeneDx RCV001711584 SCV001945987 benign not provided 2018-07-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082701 SCV000152411 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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