ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.1987ATG[1] (p.Met664del)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003134097 SCV003817052 likely pathogenic not provided 2023-01-19 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003134097 SCV004224373 uncertain significance not provided 2022-12-22 criteria provided, single submitter clinical testing PM2, PM4

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