ClinVar Miner

Submissions for variant NM_016356.5(DCDC2):c.715T>G (p.Ser239Ala)

gnomAD frequency: 0.00183  dbSNP: rs144695853
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729343 SCV000856995 uncertain significance not provided 2018-06-28 criteria provided, single submitter clinical testing
Invitae RCV001087029 SCV001093079 likely benign Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis 2023-12-02 criteria provided, single submitter clinical testing
GeneDx RCV000729343 SCV001911365 benign not provided 2018-12-18 criteria provided, single submitter clinical testing

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