ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.3936A>G (p.Ala1312=)

gnomAD frequency: 0.00006  dbSNP: rs398124433
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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) RCV000723701 SCV000114269 uncertain significance not provided 2013-08-20 criteria provided, single submitter clinical testing
GeneDx RCV000082314 SCV000723283 likely benign not specified 2017-10-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000723701 SCV001679828 likely benign not provided 2024-01-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826770 SCV002094784 likely benign Usher syndrome type 1F 2020-12-09 no assertion criteria provided clinical testing

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