ClinVar Miner

Submissions for variant NM_016356.5(DCDC2):c.68G>T (p.Arg23Leu)

gnomAD frequency: 0.00009  dbSNP: rs745333409
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001088767 SCV000825678 likely benign Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis 2024-01-20 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000728139 SCV000855673 uncertain significance not provided 2018-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000728139 SCV001780271 likely benign not provided 2020-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938043 SCV004754594 likely benign DCDC2-related condition 2023-08-22 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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