ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.7319C>T (p.Thr2440Met)

gnomAD frequency: 0.00441  dbSNP: rs146569005
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513963 SCV000610488 likely benign not provided 2017-03-10 criteria provided, single submitter clinical testing
Invitae RCV001085978 SCV000755487 benign Jeune thoracic dystrophy 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003103801 SCV000885346 likely benign Asphyxiating thoracic dystrophy 3 2022-04-08 criteria provided, single submitter clinical testing
GeneDx RCV000513963 SCV001892419 benign not provided 2018-08-03 criteria provided, single submitter clinical testing

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