ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1983C>T (p.Asn661=) (rs146474860)

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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 RCV000035756 SCV000059407 likely benign not specified 2014-09-17 criteria provided, single submitter clinical testing Asn661Asn in exon 18 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 2/8600 European Amer ican chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington .edu/EVS/; dbSNP rs146474860).
Illumina Clinical Services Laboratory,Illumina RCV000401545 SCV000386173 uncertain significance Myosin storage myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278303 SCV000386174 uncertain significance Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000338654 SCV000386175 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402013 SCV000386176 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303497 SCV000386177 uncertain significance Scapuloperoneal myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358253 SCV000386178 uncertain significance Myopathy, distal, 1 2016-06-14 criteria provided, single submitter clinical testing

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