ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.12766-7dup

dbSNP: rs747006567
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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 RCV000351038 SCV000366885 uncertain significance Short rib-polydactyly syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000390897 SCV000366886 uncertain significance Jeune thoracic dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000390897 SCV003449222 benign Jeune thoracic dystrophy 2023-11-13 criteria provided, single submitter clinical testing

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