ClinVar Miner

Submissions for variant NM_016356.5(DCDC2):c.1359A>G (p.Pro453=)

gnomAD frequency: 0.00003  dbSNP: rs374448795
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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) RCV000728629 SCV000856228 uncertain significance not provided 2017-08-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002536415 SCV003258938 likely benign Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis 2024-04-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908021 SCV004721585 likely benign DCDC2-related disorder 2021-09-15 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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