ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.11670A>G (p.Glu3890=)

gnomAD frequency: 0.00023  dbSNP: rs368459657
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000865378 SCV001006332 benign Jeune thoracic dystrophy 2024-02-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707429 SCV005233375 benign not provided criteria provided, single submitter not provided

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