ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.239A>G (p.Glu80Gly) (rs751092252)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553521 SCV000651632 benign not provided 2018-06-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718380 SCV000849242 benign History of neurodevelopmental disorder 2018-05-25 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification;Does not segregate with disease in family study (genes with incomplete penetrance)

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