ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.299del (p.Gly100fs)

dbSNP: rs1554940316
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665269 SCV000789360 likely pathogenic Usher syndrome type 1F 2017-01-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005049634 SCV005677253 likely pathogenic Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F 2024-02-22 criteria provided, single submitter clinical testing

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