ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.5335-14A>G

gnomAD frequency: 0.00031  dbSNP: rs372488002
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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 RCV000292310 SCV000366695 uncertain significance Jeune thoracic dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000351891 SCV000366696 uncertain significance Short rib-polydactyly syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000292310 SCV002407644 benign Jeune thoracic dystrophy 2024-12-04 criteria provided, single submitter clinical testing

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