ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.240C>T (p.Asn80=) (rs367658456)

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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 RCV000718660 SCV000849524 likely benign History of neurodevelopmental disorder 2017-05-09 criteria provided, single submitter clinical testing This alteration is classified as likely 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 RCV000882371 SCV001025607 likely benign Mental retardation, autosomal dominant 31 2020-12-08 criteria provided, single submitter clinical testing

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