ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.4968+18G>A

gnomAD frequency: 0.00894  dbSNP: rs144263658
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000605271 SCV000728826 benign not specified 2017-03-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001281867 SCV001156847 benign Asphyxiating thoracic dystrophy 3 2023-10-03 criteria provided, single submitter clinical testing
Invitae RCV002066663 SCV002327043 benign Jeune thoracic dystrophy 2024-02-01 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000605271 SCV001956819 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727771 SCV001969042 likely benign not provided no assertion criteria provided clinical testing

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