ClinVar Miner

Submissions for variant NM_001123385.2(BCOR):c.780C>T (p.Ser260=) (rs1430817668)

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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 RCV000720950 SCV000851834 benign History of neurodevelopmental disorder 2010-10-28 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000863692 SCV001004396 likely benign not provided 2018-05-16 criteria provided, single submitter clinical testing

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