ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.409G>A (p.Val137Ile) (rs143421325)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000711534 SCV000294111 benign not provided 2019-05-10 criteria provided, single submitter clinical testing
Invitae RCV000711534 SCV000651640 likely benign not provided 2018-08-20 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711534 SCV000841912 benign not provided 2018-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719791 SCV000850661 likely benign History of neurodevelopmental disorder 2018-06-18 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174006 SCV001337126 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV001497475 SCV001702204 likely benign Charcot-Marie-Tooth disease, axonal, type 2O 2020-12-04 criteria provided, single submitter clinical testing

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