ClinVar Miner

Submissions for variant NM_000799.4(EPO):c.250G>A (p.Gly84Arg)

gnomAD frequency: 0.00156  dbSNP: rs137953994
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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 RCV000891058 SCV001034847 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000891058 SCV005221157 likely benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000891058 SCV005409306 uncertain significance not provided 2024-05-06 criteria provided, single submitter clinical testing BS4_supporting, BP4, BP5, PM2_moderate

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