ClinVar Miner

Submissions for variant NM_172166.4(MSH5):c.1051C>G (p.Arg351Gly)

gnomAD frequency: 0.01049  dbSNP: rs28399976
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003434313 SCV004156173 benign not provided 2023-10-01 criteria provided, single submitter clinical testing MSH5: PP3, BS1, BS2
Mendelics RCV003492267 SCV004232611 benign Spermatogenic failure 74 2024-01-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003931267 SCV004746408 benign MSH5-related disorder 2019-09-24 criteria provided, single submitter 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).
Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University RCV001663373 SCV001877154 pathogenic Genetic non-acquired premature ovarian failure 2019-10-01 no assertion criteria provided research

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