ClinVar Miner

Submissions for variant NM_016356.5(DCDC2):c.294-21GTTT[2]

dbSNP: rs374485384
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000555017 SCV000641951 benign Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000613341 SCV000717851 benign not specified 2018-01-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics RCV000991874 SCV001143708 benign not provided 2018-11-19 criteria provided, single submitter clinical testing

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