ClinVar Miner

Submissions for variant NM_000037.4(ANK1):c.3973A>G (p.Met1325Val)

gnomAD frequency: 0.04068  dbSNP: rs10093583
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000242898 SCV000313588 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000388799 SCV000473845 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.
SIB Swiss Institute of Bioinformatics RCV000242898 SCV000803629 benign not specified 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign - Stand Alone. The following ACMG Tag(s) were applied: BP4 => Multiple lines of computational evidence suggest no impact on gene or gene product (conservation, evolutionary, splicing impact, etc.). BA1 => Allele frequency is >5% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age.
Illumina Laboratory Services, Illumina RCV001161250 SCV001323107 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 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 RCV000388799 SCV001473366 benign Hereditary spherocytosis type 1 2023-10-27 criteria provided, single submitter clinical testing
Invitae RCV002058299 SCV002432386 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000388799 SCV002524963 benign Hereditary spherocytosis type 1 2021-12-05 criteria provided, single submitter clinical testing

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