ClinVar Miner

Submissions for variant NM_005142.3(CBLIF):c.764A>G (p.Asn255Ser)

gnomAD frequency: 0.02593  dbSNP: rs35867471
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000354714 SCV000372570 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000354714 SCV000760497 benign Hereditary intrinsic factor deficiency 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001706453 SCV001902876 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001706453 SCV004563026 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001706453 SCV005324348 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003977881 SCV004787838 benign CBLIF-related disorder 2019-08-06 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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