ClinVar Miner

Submissions for variant NM_016356.5(DCDC2):c.478A>C (p.Arg160=)

gnomAD frequency: 0.00030  dbSNP: rs201204772
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698030 SCV000726177 benign not provided 2020-03-03 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000609105 SCV000856036 likely benign not specified 2017-07-25 criteria provided, single submitter clinical testing
Invitae RCV000954349 SCV001100977 benign Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498952 SCV002805124 likely benign Autosomal recessive nonsyndromic hearing loss 66; Nephronophthisis 19; Isolated neonatal sclerosing cholangitis 2021-08-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945523 SCV004762323 likely benign DCDC2-related condition 2019-11-08 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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