ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.12006C>T (p.Ile4002=)

gnomAD frequency: 0.00007  dbSNP: rs775505863
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180419 SCV000232848 uncertain significance not provided 2015-03-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002517763 SCV001008163 likely benign Jeune thoracic dystrophy 2024-10-15 criteria provided, single submitter clinical testing

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