ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.4884T>C (p.Thr1628=)

gnomAD frequency: 0.00558  dbSNP: rs16937781
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039746 SCV000063435 benign not specified 2012-05-14 criteria provided, single submitter clinical testing Thr1628Thr in Exon 33 of PCDH15: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 1.6% (59/3738) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs16937781).
GeneDx RCV000881153 SCV000725483 benign not provided 2018-06-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000881153 SCV001024300 benign not provided 2025-01-15 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000039746 SCV001921197 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000039746 SCV001974939 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV001831687 SCV002089160 benign Usher syndrome type 1F 2019-12-06 no assertion criteria provided clinical testing

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