ClinVar Miner

Submissions for variant NM_012309.5(SHANK2):c.7C>T (p.Arg3Cys)

gnomAD frequency: 0.00001  dbSNP: rs373379917
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000271211 SCV000373882 uncertain significance Autism spectrum disorder 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002520760 SCV003700252 likely benign Inborn genetic diseases 2021-11-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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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