ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.183G>C (p.Val61=)

gnomAD frequency: 0.01208  dbSNP: rs61753680
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252769 SCV000313576 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001000234 SCV000473915 benign Hereditary spherocytosis type 1 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000234 SCV001156767 benign Hereditary spherocytosis type 1 2023-09-13 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001160175 SCV001321955 likely benign Spherocytosis 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV002058296 SCV002337557 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001000234 SCV002524985 benign Hereditary spherocytosis type 1 2021-12-05 criteria provided, single submitter clinical testing

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