ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.4053T>C (p.Tyr1351=)

gnomAD frequency: 0.00026  dbSNP: rs372246714
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756061 SCV000883774 likely benign not provided 2017-10-24 criteria provided, single submitter clinical testing
Invitae RCV002067188 SCV002336454 likely benign Jeune thoracic dystrophy 2024-01-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938132 SCV004760509 likely benign DYNC2H1-related condition 2023-04-10 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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