ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.1857+8A>G

gnomAD frequency: 0.00001  dbSNP: rs751414927
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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) RCV000728918 SCV000856543 uncertain significance not provided 2017-09-07 criteria provided, single submitter clinical testing
Invitae RCV003768184 SCV004683384 likely benign Jeune thoracic dystrophy 2023-12-27 criteria provided, single submitter clinical testing

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