ClinVar Miner

Submissions for variant NM_001031679.3(MSRB3):c.391-7C>G

gnomAD frequency: 0.00002  dbSNP: rs758848551
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002226023 SCV002503998 uncertain significance not provided 2022-04-05 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
PreventionGenetics, part of Exact Sciences RCV003903619 SCV004727635 likely benign MSRB3-related disorder 2020-05-21 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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