ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2349C>T (p.Arg783=) (rs139882431)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035785 SCV000059436 likely benign not specified 2016-08-09 criteria provided, single submitter clinical testing p.Arg783Arg in exon 21 of MYH7: 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 38/66720 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org;dbSNP rs139882431).
PreventionGenetics,PreventionGenetics RCV000035785 SCV000303217 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001094216 SCV000386161 likely benign Familial hypertrophic cardiomyopathy 1 2019-03-25 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 RCV000264496 SCV000386162 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360132 SCV000386164 likely benign Dilated cardiomyopathy 1S 2019-03-25 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 RCV000270322 SCV000386165 likely benign Myopathy, distal, 1 2019-03-25 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 RCV000325337 SCV000386166 likely benign Myosin storage myopathy 2019-03-25 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.
Invitae RCV000359211 SCV000557946 likely benign Hypertrophic cardiomyopathy 2019-12-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000035785 SCV000696341 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622074 SCV000736799 likely benign Cardiovascular phenotype 2017-03-28 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
CeGaT Praxis fuer Humangenetik Tuebingen RCV000590341 SCV000780472 likely benign not provided 2018-01-01 criteria provided, single submitter clinical testing
Color RCV000777761 SCV000913727 likely benign Cardiomyopathy 2018-05-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000590341 SCV001144677 likely benign not provided 2019-07-18 criteria provided, single submitter clinical testing

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