ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1790+7G>A (rs374852831)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035434 SCV000059082 benign not specified 2015-04-29 criteria provided, single submitter clinical testing c.1790+7G>A in intron 18 of MYBPC3: This variant is not expected to have clinica l significance because it is not located within the splice consensus sequence. I t has been identified in 1.9% (153/7952) of South Asian chromosomes including fo ur homozygous individuals by the Exome Aggregation Consortium (ExAC, http://exac .broadinstitute.org/; dbSNP rs374852831).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035434 SCV000226725 benign not specified 2015-02-05 criteria provided, single submitter clinical testing
Invitae RCV000198260 SCV000252658 benign Hypertrophic cardiomyopathy 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000605114 SCV001263229 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). 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.
Illumina Clinical Services Laboratory,Illumina RCV001106190 SCV001263230 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.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000605114 SCV000733046 likely benign Familial hypertrophic cardiomyopathy 4 no assertion criteria provided clinical testing

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