ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.4611G>A (p.Val1537=) (rs142983918)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037511 SCV000061169 likely benign not specified 2012-04-12 criteria provided, single submitter clinical testing Val1537Val in Exon 32 of MYH6: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence. It has been identified in 0.2% (6/3738) of Afric an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS; dbSNP rs142983918). Val1537Val in Exon 32 of MYH6 (rs142983918; allele frequency = 0.2%, 6/3738) **
Invitae RCV000533203 SCV000648266 likely benign Familial hypertrophic cardiomyopathy 14 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617217 SCV000740075 likely benign Cardiovascular phenotype 2016-11-17 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770432 SCV000901875 likely benign Cardiomyopathy 2017-08-21 criteria provided, single submitter clinical testing

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