ClinVar Miner

Submissions for variant NM_014391.3(ANKRD1):c.346-15T>A

gnomAD frequency: 0.01849  dbSNP: rs11595794
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123656 SCV000166995 benign not specified 2012-10-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Laboratory Services, Illumina RCV000285645 SCV000366045 likely benign Primary dilated cardiomyopathy 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811988 SCV001472339 benign not provided 2023-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055417 SCV002401446 benign ANKRD1-related dilated cardiomyopathy 2024-01-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000123656 SCV004029099 benign not specified 2023-07-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001811988 SCV005221898 likely benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000123656 SCV001919895 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000123656 SCV001958772 benign not specified no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003975096 SCV004791076 likely benign ANKRD1-related disorder 2021-06-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Institute of Human Genetics, University of Wuerzburg RCV004595930 SCV005088689 not provided Hypertrophic cardiomyopathy 2 no assertion provided clinical testing

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