ClinVar Miner

Submissions for variant NM_016356.5(DCDC2):c.923-12T>G

gnomAD frequency: 0.00015  dbSNP: rs200973005
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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 RCV002120570 SCV002438423 likely benign Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis 2024-01-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707780 SCV005224997 likely benign not provided criteria provided, single submitter not provided

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