ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.1306-4123C>T

gnomAD frequency: 0.17435  dbSNP: rs16905686
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Total submissions: 5
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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 RCV000037006 SCV000060662 benign not specified 2012-05-07 criteria provided, single submitter clinical testing 1321-7C>T in Intron 12 of PCDH15: This variant is not expected to have clinical significance because it has been identified in 12.6% (685/5434) of European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs16905686).
Labcorp Genetics (formerly Invitae), Labcorp RCV001517122 SCV001725553 benign not provided 2023-12-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533760 SCV001750551 benign Usher syndrome type 1F 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001517122 SCV001942686 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001517122 SCV005322706 benign not provided criteria provided, single submitter not provided

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