ClinVar Miner

Submissions for variant NM_016356.5(DCDC2):c.1099T>A (p.Ser367Thr)

gnomAD frequency: 0.00002  dbSNP: rs538198742
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001404635 SCV001606540 likely benign Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis 2023-11-10 criteria provided, single submitter clinical testing
GeneDx RCV001578227 SCV001805776 likely benign not provided 2018-12-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001578227 SCV003834272 uncertain significance not provided 2021-08-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953741 SCV004771270 likely benign DCDC2-related disorder 2023-12-07 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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