ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.3502-6G>A

gnomAD frequency: 0.00028  dbSNP: rs749897896
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000936505 SCV001082274 likely benign not provided 2024-01-13 criteria provided, single submitter clinical testing
GeneDx RCV000936505 SCV001849463 likely benign not provided 2021-09-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489251 SCV002802139 likely benign Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F 2021-07-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273386 SCV001456417 uncertain significance Usher syndrome type 1F 2020-01-24 no assertion criteria provided clinical testing

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