ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.2252G>A (p.Arg751Gln)

dbSNP: rs2141275001
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001837645 SCV002098203 likely pathogenic not provided 2024-11-04 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25609763, 25512093, 26100331, 33057194, 35982159)
Revvity Omics, Revvity RCV001837645 SCV003829188 uncertain significance not provided 2022-11-15 criteria provided, single submitter clinical testing

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