ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.9900C>A (p.Ser3300Arg) (rs34270799)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171795 SCV000050803 benign not specified 2013-06-24 criteria provided, single submitter research
PreventionGenetics,PreventionGenetics RCV000171795 SCV000306900 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000243731 SCV000318497 benign Cardiovascular phenotype 2015-07-27 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
Illumina Clinical Services Laboratory,Illumina RCV000625129 SCV000447220 benign Cardiac arrhythmia, ankyrin B-related 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.
Invitae RCV000311991 SCV000557180 benign Long QT syndrome 2020-12-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625129 SCV000743829 likely benign Cardiac arrhythmia, ankyrin B-related 2014-10-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283420 SCV001157080 benign none provided 2020-08-10 criteria provided, single submitter clinical testing

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