ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.3015A>G (p.Leu1005=)

gnomAD frequency: 0.00128  dbSNP: rs201310509
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176169 SCV000227783 likely benign not specified 2015-03-10 criteria provided, single submitter clinical testing
Invitae RCV000634183 SCV000755483 benign Jeune thoracic dystrophy 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001657950 SCV001872274 likely benign not provided 2021-10-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000176169 SCV002064910 uncertain significance not specified 2017-08-15 criteria provided, single submitter clinical testing

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