ClinVar Miner

Submissions for variant NM_173495.3(PTCHD1):c.93G>A (p.Ala31=)

gnomAD frequency: 0.03486  dbSNP: rs12014412
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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) RCV000082702 SCV000114746 benign not specified 2013-09-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311743 SCV000846623 benign Inborn genetic diseases 2016-03-23 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 RCV001540522 SCV001758416 benign not provided 2018-09-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082702 SCV000152412 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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