ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.2169G>A (p.Trp723Ter)

dbSNP: rs2047358814
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001813132 SCV001473805 pathogenic not provided 2019-12-19 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001813132 SCV002573764 likely pathogenic not provided 2024-07-17 criteria provided, single submitter clinical testing PM2_moderate, PVS1

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