ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1755C>A (p.Ile585=) (rs201860580)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621588 SCV000735628 likely benign Cardiovascular phenotype 2016-07-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000777768 SCV000913738 likely benign Cardiomyopathy 2018-05-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280479 SCV000386191 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000340222 SCV000386192 likely benign Myosin storage myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376055 SCV000386193 likely benign Myopathy, distal, 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286338 SCV000386194 likely benign Scapuloperoneal myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341444 SCV000386195 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000399496 SCV000386196 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000280479 SCV000623651 likely benign Hypertrophic cardiomyopathy 2017-11-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035745 SCV000059396 likely benign not specified 2012-10-16 criteria provided, single submitter clinical testing Ile585Ile in exon 16 of MYH7: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 1/110 chromosomes fr om the Puerto Rico population by the 1000 Genomes Sequencing Project (dbSNP rs20 1860580).

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