ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.3555G>T (p.Gly1185=) (rs142714242)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720214 SCV000851091 likely benign History of neurodevelopmental disorder 2016-06-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Athena Diagnostics Inc RCV000712139 SCV000842562 likely benign not provided 2017-09-21 criteria provided, single submitter clinical testing
Invitae RCV000542521 SCV000653822 benign Mental retardation, X-linked 98 2017-12-26 criteria provided, single submitter clinical testing

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