ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.16-14G>A

gnomAD frequency: 0.01351  dbSNP: rs145502796
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246538 SCV000303731 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000383264 SCV000403314 benign Hereditary spherocytosis type 4 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.
Illumina Laboratory Services, Illumina RCV000272446 SCV000403315 benign Autosomal dominant distal renal tubular acidosis 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.
Illumina Laboratory Services, Illumina RCV000324926 SCV000403316 benign Hemolytic anemia 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001520172 SCV001473635 benign not provided 2023-09-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001520172 SCV001729221 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001520172 SCV001782665 likely benign not provided 2020-05-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27884173, 23255290)
CeGaT Center for Human Genetics Tuebingen RCV001520172 SCV004140662 benign not provided 2024-07-01 criteria provided, single submitter clinical testing SLC4A1: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001520172 SCV005212862 likely benign not provided criteria provided, single submitter not provided

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