ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.3832C>A (p.Gln1278Lys)

dbSNP: rs2132762710
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001578702 SCV001805983 uncertain significance Autosomal recessive nonsyndromic hearing loss 23 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578703 SCV001805984 uncertain significance Usher syndrome type 1F 2021-07-14 criteria provided, single submitter clinical testing

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