ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.2285G>T (p.Ser762Ile)

dbSNP: rs2047357659
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001507892 SCV001713725 likely pathogenic not provided 2019-09-27 criteria provided, single submitter clinical testing PM1, PM2, PM5, PP3

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