ClinVar Miner

Submissions for variant NM_014391.3(ANKRD1):c.319G>T (p.Val107Leu) (rs114435632)

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Total submissions: 8
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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 RCV000172740 SCV000051364 benign Primary dilated cardiomyopathy 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038848 SCV000062526 likely benign not specified 2015-08-21 criteria provided, single submitter clinical testing p.Val107Leu in exon 3 of ANKRD1: This variant is not expected to have clinical s ignificance because it has been identified in 0.8% (81/10346) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs114435632).
GeneDx RCV000038848 SCV000235710 likely benign not specified 2017-07-10 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.
Invitae RCV000468471 SCV000563270 benign ANKRD1-related dilated cardiomyopathy 2020-10-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620745 SCV000735851 likely benign Cardiovascular phenotype 2018-08-30 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000038848 SCV000740550 benign not specified 2016-08-30 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770307 SCV000901740 likely benign Cardiomyopathy 2017-02-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000038848 SCV001156623 likely benign not specified 2019-03-03 criteria provided, single submitter clinical testing

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