ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.9846T>C (p.Asp3282=)

dbSNP: rs886047572
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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 RCV000311264 SCV000366787 uncertain significance Short rib-polydactyly syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000368228 SCV000366788 uncertain significance Jeune thoracic dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000368228 SCV004653131 likely benign Jeune thoracic dystrophy 2024-01-08 criteria provided, single submitter clinical testing

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