ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.2145A>G (p.Gln715=)

gnomAD frequency: 0.00024  dbSNP: rs373969189
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000863451 SCV001004116 likely benign Jeune thoracic dystrophy 2024-01-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002499 SCV001160456 likely benign Asphyxiating thoracic dystrophy 3 2020-04-17 criteria provided, single submitter clinical testing

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