ClinVar Miner

Submissions for variant NM_001372078.1(REV3L):c.2271G>T (p.Val757=)

gnomAD frequency: 0.00165  dbSNP: rs74787235
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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 RCV000899154 SCV001043405 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003958109 SCV004770246 likely benign REV3L-related disorder 2019-12-05 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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