ClinVar Miner

Submissions for variant NM_005142.3(CBLIF):c.68A>G (p.Gln23Arg)

gnomAD frequency: 0.09973  dbSNP: rs35211634
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000346011 SCV000372581 benign Hereditary intrinsic factor deficiency 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000346011 SCV001724323 benign Hereditary intrinsic factor deficiency 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001650825 SCV001869295 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
OMIM RCV000001812 SCV000021968 risk factor Intrinsic factor deficiency, congenital, susceptibility to 2005-03-15 no assertion criteria provided literature only

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