ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.7128A>G (p.Ala2376=)

gnomAD frequency: 0.00193  dbSNP: rs371410128
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000277278 SCV000332745 likely benign not specified 2015-07-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088555 SCV000755496 benign Jeune thoracic dystrophy 2024-01-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756053 SCV000883764 benign not provided 2017-06-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000756053 SCV001747023 likely benign not provided 2021-03-01 criteria provided, single submitter clinical testing
GeneDx RCV000756053 SCV001859792 benign not provided 2019-02-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000277278 SCV002070180 likely benign not specified 2020-03-17 criteria provided, single submitter clinical testing

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