ClinVar Miner

Submissions for variant NM_002444.3(MSN):c.768C>A (p.Val256=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003100156 SCV003481202 benign not provided 2023-04-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003100156 SCV004165222 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing MSN: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003963634 SCV004782216 likely benign MSN-related disorder 2020-05-05 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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