ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2800C>T (p.Leu934=) (rs367980215)

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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 RCV000035527 SCV000059177 likely benign not specified 2012-07-24 criteria provided, single submitter clinical testing Leu934Leu in exon 27 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. It has been identified in 1/8304 European Am erican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). Leu934Leu in exon 27 of MYBPC3 (allele fre quency = 1/8304) **
Invitae RCV000527686 SCV000623575 likely benign Hypertrophic cardiomyopathy 2020-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621573 SCV000740017 likely benign Cardiovascular phenotype 2017-01-09 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769313 SCV000900691 likely benign Cardiomyopathy 2017-08-24 criteria provided, single submitter clinical testing
Color Health, Inc RCV000769313 SCV000913825 benign Cardiomyopathy 2018-10-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001103021 SCV001259731 likely benign Left ventricular noncompaction 10 2018-01-13 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.
Illumina Clinical Services Laboratory,Illumina RCV001104919 SCV001261825 uncertain significance Familial hypertrophic cardiomyopathy 4 2018-01-13 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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