ClinVar Miner

Submissions for variant NM_012309.5(SHANK2):c.613G>T (p.Ala205Ser)

dbSNP: rs189053721
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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 RCV000273870 SCV000373865 uncertain significance Autism spectrum disorder 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004544519 SCV004773874 benign SHANK2-related disorder 2020-02-18 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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