ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.4051del (p.Asp1351fs)

dbSNP: rs1586114714
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029896 SCV001192687 likely pathogenic Hereditary spherocytosis type 1 2019-03-22 no assertion criteria provided clinical testing

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