ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.1948A>G (p.Met650Val)

dbSNP: rs1057518790
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197413 SCV001368147 uncertain significance Hereditary spherocytosis type 1 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. This variant was inherited from a parent.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415020 SCV000492587 uncertain significance Anemia 2016-05-16 no assertion criteria provided clinical testing

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