ClinVar Miner

Submissions for variant NM_016356.5(DCDC2):c.349-9C>G

gnomAD frequency: 0.00014  dbSNP: rs765613994
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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) RCV000730912 SCV000858679 uncertain significance not provided 2017-12-13 criteria provided, single submitter clinical testing
Invitae RCV001087061 SCV001098184 likely benign Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis 2023-12-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953321 SCV004767580 likely benign DCDC2-related condition 2023-03-02 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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