ClinVar Miner

Submissions for variant NM_005142.3(CBLIF):c.370+1G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003142348 SCV003807896 likely pathogenic Hereditary intrinsic factor deficiency 2022-08-23 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 moderated, PM2 moderated, PM3 supporting, PP4

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