ClinVar Miner

Submissions for variant NM_000175.5(GPI):c.214-12G>A

gnomAD frequency: 0.00019  dbSNP: rs369778460
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV002261610 SCV002541508 uncertain significance not provided 2021-08-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002261610 SCV005721398 likely benign not provided 2024-02-20 criteria provided, single submitter clinical testing

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