ClinVar Miner

Submissions for variant NM_004463.3(FGD1):c.2289G>A (p.Lys763=) (rs150865566)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081096 SCV000113004 uncertain significance not provided 2014-07-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718616 SCV000849480 likely benign History of neurodevelopmental disorder 2017-04-14 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000081096 SCV001063902 benign not provided 2018-05-18 criteria provided, single submitter clinical testing

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