ClinVar Miner

Submissions for variant NM_005142.3(CBLIF):c.346C>T (p.Gln116Ter)

dbSNP: rs796064508
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003311710 SCV004010071 pathogenic not provided 2023-08-01 criteria provided, single submitter clinical testing CBLIF: PVS1, PM2
Inserm U 954, Faculté de Médecine de Nancy RCV000190387 SCV000243921 not provided Hereditary intrinsic factor deficiency no assertion provided not provided

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