ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) (rs145379951)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, RCV000758047 SCV000564440 benign Cardiomyopathy 2016-12-15 reviewed by expert panel curation The filtering allele frequency of the c.3036C>T (p.Ala1012=) silent variant in the MYH7 gene is 0.7% (137/16512) of South Asian chromosomes by the Exome Aggregation Consortium (http://exac.broadinstitute.org), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Inherited Cardiomyopathy Expert Panel (BA1, BP7; PMID:29300372).
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035838 SCV000059489 likely benign not specified 2012-04-06 criteria provided, single submitter clinical testing p.Ala1012Ala in exon 24 of MYH7: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 1/3738 African Am erican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs145379951).
Invitae RCV000857733 SCV000259576 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000035838 SCV000303220 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000242322 SCV000318949 likely benign Cardiovascular phenotype 2015-09-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314574 SCV000386077 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366944 SCV000386078 likely benign Myopathy, distal, 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275425 SCV000386079 likely benign Myosin storage myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000204766 SCV000386080 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357420 SCV000386081 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260213 SCV000386082 likely benign Scapuloperoneal myopathy 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000035838 SCV000595883 likely benign not specified 2016-05-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035838 SCV000856902 benign not specified 2017-09-28 criteria provided, single submitter clinical testing
Color RCV000758047 SCV000910861 benign Cardiomyopathy 2018-03-07 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000857733 SCV001149182 likely benign not provided 2018-11-01 criteria provided, single submitter clinical testing

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