ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.1299G>A (p.Leu433=) (rs1566997875)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717596 SCV000848449 likely benign History of neurodevelopmental disorder 2016-12-12 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174015 SCV001337135 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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