ClinVar Miner

Submissions for variant NM_016356.5(DCDC2):c.750T>G (p.Ser250=)

gnomAD frequency: 0.00011  dbSNP: rs372157851
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000946237 SCV001092348 likely benign Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis 2023-03-27 criteria provided, single submitter clinical testing
GeneDx RCV003117648 SCV003798604 uncertain significance not provided 2022-08-04 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003942993 SCV004765183 likely benign DCDC2-related condition 2023-10-20 criteria provided, single submitter 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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