ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.954A>G (p.Lys318=)

gnomAD frequency: 0.00006  dbSNP: rs778594253
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504077 SCV000594459 uncertain significance not specified 2017-01-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002527243 SCV003005475 likely benign Jeune thoracic dystrophy 2024-02-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892133 SCV004710449 likely benign DYNC2H1-related disorder 2020-10-07 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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