ClinVar Miner

Submissions for variant NM_014391.2(ANKRD1):c.108T>C (p.Ala36=) (rs145211719)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000442234 SCV000517101 benign not specified 2015-07-02 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.
Ambry Genetics RCV000619438 SCV000735627 likely benign Cardiovascular phenotype 2016-11-29 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Illumina Clinical Services Laboratory,Illumina RCV001105940 SCV001262964 likely benign Primary dilated cardiomyopathy 2017-09-18 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170405 SCV001332982 benign Cardiomyopathy 2017-12-01 criteria provided, single submitter clinical testing
Invitae RCV001519608 SCV001728497 benign ANKRD1-related dilated cardiomyopathy 2020-12-03 criteria provided, single submitter clinical testing

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