ClinVar Miner

Submissions for variant NM_005142.3(CBLIF):c.432GAA[1] (p.Lys145del)

dbSNP: rs770530971
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000190388 SCV000825306 likely benign Hereditary intrinsic factor deficiency 2024-10-17 criteria provided, single submitter clinical testing
Inserm U 954, Faculté de Médecine de Nancy RCV000190388 SCV000243922 not provided Hereditary intrinsic factor deficiency no assertion provided not provided

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