ClinVar Miner

Submissions for variant NM_005068.3(SIM1):c.743+10C>G

gnomAD frequency: 0.00001  dbSNP: rs886060897
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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 RCV000303368 SCV000459225 uncertain significance Schaaf-Yang syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004549797 SCV004753955 likely benign SIM1-related disorder 2019-10-07 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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