ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.4813del (p.Ala1605fs)

dbSNP: rs2150563125
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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 RCV001508612 SCV001714878 likely pathogenic not provided 2020-03-10 criteria provided, single submitter clinical testing PVS1, PM2
Revvity Omics, Revvity RCV003136091 SCV003815153 likely pathogenic Hereditary spherocytosis type 1 2022-01-03 criteria provided, single submitter clinical testing

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