ClinVar Miner

Submissions for variant NM_017999.5(RNF31):c.1911G>T (p.Gly637=)

gnomAD frequency: 0.00011  dbSNP: rs187060127
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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 RCV000979643 SCV001127588 benign not provided 2023-10-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003972977 SCV004786413 likely benign RNF31-related disorder 2019-04-01 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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