ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.7290C>T (p.Asn2430=) (rs112811548)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440009 SCV000522382 likely benign not specified 2016-01-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000711541 SCV000841919 benign not provided 2017-10-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720754 SCV000851635 likely benign History of neurodevelopmental disorder 2017-04-03 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001087784 SCV001003488 likely benign Charcot-Marie-Tooth disease, axonal, type 2O 2020-12-02 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173175 SCV001336255 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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