ClinVar Miner

Submissions for variant NM_007227.3(GPR45):c.487G>A (p.Ala163Thr)

gnomAD frequency: 0.00164  dbSNP: rs141953039
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002124909 SCV002406921 benign not provided 2025-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002124909 SCV005246431 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004758868 SCV005346211 likely benign GPR45-related condition 2024-04-16 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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