ClinVar Miner

Submissions for variant NM_016356.5(DCDC2):c.1147G>C (p.Asp383His)

gnomAD frequency: 0.00003  dbSNP: rs180988889
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001593935 SCV001825145 likely benign not provided 2020-11-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005213549 SCV005855075 likely benign Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis 2024-06-11 criteria provided, single submitter clinical testing

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