ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.6478-1G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003318165 SCV004021609 likely pathogenic not provided 2023-07-19 criteria provided, single submitter clinical testing Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005047521 SCV005678321 likely pathogenic Asphyxiating thoracic dystrophy 3 2024-04-06 criteria provided, single submitter clinical testing

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