ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.9842T>C (p.Ile3281Thr)

gnomAD frequency: 0.00001  dbSNP: rs1204094235
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756058 SCV000883770 uncertain significance not provided 2017-07-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485953 SCV002790879 uncertain significance Asphyxiating thoracic dystrophy 3 2022-03-01 criteria provided, single submitter clinical testing

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