ClinVar Miner

Submissions for variant NM_012309.5(SHANK2):c.771A>G (p.Pro257=)

gnomAD frequency: 0.00019  dbSNP: rs200821952
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000298133 SCV000373860 uncertain significance Autism spectrum disorder 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884455 SCV004699201 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing SHANK2: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004537724 SCV004720999 likely benign SHANK2-related disorder 2020-01-31 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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