ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2460G>A (p.Arg820=) (rs532996422)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154525 SCV000204197 likely benign not specified 2013-04-03 criteria provided, single submitter clinical testing Arg820Arg in exon 25 of MYBPC3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. Arg820Arg in exon 25 of MYBPC3 (allele freq uency = n/a)
Invitae RCV000540085 SCV000623558 benign Hypertrophic cardiomyopathy 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617209 SCV000740135 likely benign Cardiovascular phenotype 2017-03-13 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769320 SCV000900698 likely benign Cardiomyopathy 2017-10-25 criteria provided, single submitter clinical testing
Color RCV000769320 SCV000904573 benign Cardiomyopathy 2018-10-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001103113 SCV001259831 likely benign Left ventricular noncompaction 10 2017-04-27 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV001103114 SCV001259832 likely benign Familial hypertrophic cardiomyopathy 4 2017-04-27 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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