ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.1626G>A (p.Lys542=)

dbSNP: rs2144611947
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001507898 SCV001713731 pathogenic not provided 2019-12-18 criteria provided, single submitter clinical testing PVS1, PM2, PP3, PP5
Revvity Omics, Revvity RCV001507898 SCV004237348 uncertain significance not provided 2023-04-12 criteria provided, single submitter clinical testing

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