ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.4719G>A (p.Leu1573=)

gnomAD frequency: 0.00001  dbSNP: rs529962978
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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) RCV000303306 SCV000337208 uncertain significance not provided 2015-11-11 criteria provided, single submitter clinical testing
Invitae RCV000303306 SCV001724738 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000303306 SCV004125392 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing PCDH15: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003957427 SCV004769432 likely benign PCDH15-related condition 2019-12-09 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001833335 SCV002089238 benign Usher syndrome type 1F 2020-01-28 no assertion criteria provided clinical testing

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