ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.1917+13GT[10]

dbSNP: rs5785040
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Total submissions: 4
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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 RCV000214489 SCV000269622 benign not specified 2014-12-08 criteria provided, single submitter clinical testing c.1917+13GT[10] in intron 15 of PCDH15: This variant is not expected to have cli nical significance because it is not located within the splice consensus sequenc e. It has been detected in 8.9% (4209/47276) of chromosomes across several diver se populations by the Exome Aggregate Consortium (http://exac.broadinstitute.org /variant/10-55892600-TAC-T).
GeneDx RCV001682928 SCV001903646 benign not provided 2019-08-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788083 SCV002029426 benign Usher syndrome type 1F 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788084 SCV002029427 benign Autosomal recessive nonsyndromic hearing loss 23 2021-09-05 criteria provided, single submitter clinical testing

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