ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.1864G>A (p.Asp622Asn) (rs138452803)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000253694 SCV000320251 uncertain significance Cardiovascular phenotype 2017-04-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769763 SCV000901185 uncertain significance Cardiomyopathy 2016-10-18 criteria provided, single submitter clinical testing
GeneDx RCV000036887 SCV000235692 likely benign not specified 2017-10-27 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 Clinical Services Laboratory,Illumina RCV000396270 SCV000355937 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000315302 SCV000355938 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000473724 SCV000563577 likely benign Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 2017-11-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036887 SCV000060542 likely benign not specified 2015-01-29 criteria provided, single submitter clinical testing p.Asp622Asn in exon 16 of ACTN2: This variant is not expected to have clinical s ignificance because it has been identified in 0.3% (33/10562) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs138452803).

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