ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.10094A>T (p.Glu3365Val)

dbSNP: rs1864914192
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001596865 SCV001832358 likely pathogenic not provided 2019-11-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005040333 SCV005678361 pathogenic Asphyxiating thoracic dystrophy 3 2024-01-15 criteria provided, single submitter clinical testing

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