ClinVar Miner

Submissions for variant NM_172166.4(MSH5):c.306G>A (p.Thr102=)

gnomAD frequency: 0.00166  dbSNP: rs112145890
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000891172 SCV001034967 benign not provided 2018-06-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003930796 SCV004741267 likely benign MSH5-related disorder 2019-09-24 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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