ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.69T>C (p.Leu23=)

gnomAD frequency: 0.00047  dbSNP: rs151173533
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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 RCV000398187 SCV000481949 benign VACTERL association, X-linked, with or without hydrocephalus 2018-01-13 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.
Illumina Laboratory Services, Illumina RCV000309558 SCV000481950 benign Fanconi anemia complementation group B 2018-01-13 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.
CeGaT Center for Human Genetics Tuebingen RCV000762608 SCV000892941 likely benign not provided 2018-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081437 SCV001000596 benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001081437 SCV002536439 likely benign Fanconi anemia 2021-03-04 criteria provided, single submitter curation
Breakthrough Genomics, Breakthrough Genomics RCV000762608 SCV005207996 likely benign not provided criteria provided, single submitter not provided

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