ClinVar Miner

Submissions for variant NM_005475.3(SH2B3):c.733-11835T>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736358 SCV004564100 likely benign not provided 2023-09-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003919379 SCV004736303 benign SH2B3-related disorder 2019-08-19 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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