ClinVar Miner

Submissions for variant NM_016356.5(DCDC2):c.1327-15T>A

gnomAD frequency: 0.00002  dbSNP: rs1027558772
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002579202 SCV003490399 likely benign Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis 2023-11-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005034718 SCV005669405 uncertain significance Autosomal recessive nonsyndromic hearing loss 66; Nephronophthisis 19; Isolated neonatal sclerosing cholangitis 2024-05-10 criteria provided, single submitter clinical testing

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