ClinVar Miner

Submissions for variant NM_012309.5(SHANK2):c.900C>T (p.His300=)

gnomAD frequency: 0.00029  dbSNP: rs529058522
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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 RCV000356515 SCV000373858 uncertain significance Autism spectrum disorder 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004544518 SCV004758147 likely benign SHANK2-related disorder 2019-12-20 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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