ClinVar Miner

Submissions for variant NM_016356.5(DCDC2):c.1208G>A (p.Arg403His)

gnomAD frequency: 0.00194  dbSNP: rs139858268
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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 RCV000530128 SCV000641949 likely benign Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis 2023-11-25 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727868 SCV000855359 likely benign not specified 2017-11-10 criteria provided, single submitter clinical testing
GeneDx RCV001706670 SCV001863848 benign not provided 2018-09-02 criteria provided, single submitter clinical testing

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