ClinVar Miner

Submissions for variant NM_006915.3(RP2):c.438A>G (p.Gly146=)

gnomAD frequency: 0.00012  dbSNP: rs140187043
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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 RCV000975416 SCV001123299 benign not provided 2024-01-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003943248 SCV004762982 likely benign RP2-related disorder 2019-02-18 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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