ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.2373A>C (p.Thr791=) (rs61742545)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000712136 SCV000653812 benign not provided 2020-12-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712136 SCV000842559 likely benign not provided 2018-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716524 SCV000847365 benign History of neurodevelopmental disorder 2014-09-30 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.

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