ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.10848T>G (p.Ser3616=)

gnomAD frequency: 0.00001  dbSNP: rs199958495
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000401909 SCV000366823 uncertain significance Jeune thoracic dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000308889 SCV000366824 uncertain significance Short rib-polydactyly syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000401909 SCV004261267 likely benign Jeune thoracic dystrophy 2024-01-12 criteria provided, single submitter clinical testing

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