ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.4506C>T (p.Arg1502=)

gnomAD frequency: 0.02104  dbSNP: rs34265667
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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 RCV000252101 SCV000313593 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000308048 SCV000473832 benign Hereditary spherocytosis type 1 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 RCV000308048 SCV000602487 benign Hereditary spherocytosis type 1 2023-10-04 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001159739 SCV001321468 likely benign Spherocytosis 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 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 RCV002058302 SCV002489105 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000308048 SCV002524959 benign Hereditary spherocytosis type 1 2021-12-05 criteria provided, single submitter clinical testing

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