ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5260TCTCCTCCT[1] (p.1754SPP[1])

dbSNP: rs727503363
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Total submissions: 3
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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 RCV000151624 SCV000199838 benign not specified 2013-08-16 criteria provided, single submitter clinical testing Ser1757_Pro1759del in exon 33 of PCDH15: This variant is not expected to have c linical significance because it has been identified in 0.12% (10/8244) of Europe an American chromosomes and 0.58% (25/4260) of African American chromosomes by t he NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/)
Labcorp Genetics (formerly Invitae), Labcorp RCV001244893 SCV001418144 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001244893 SCV001782122 likely benign not provided 2021-12-29 criteria provided, single submitter clinical testing

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