ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.930T>C (p.Tyr310=) (rs111626355)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, RCV000758031 SCV000564501 benign Cardiomyopathy 2016-12-15 reviewed by expert panel curation The filtering allele frequency of the c.930T>C (p.Tyr310=) variant in the MYH7 gene is 0.23% (33/10334) of African 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; PMID:29300372).
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154503 SCV000204174 benign not specified 2009-03-24 criteria provided, single submitter clinical testing Tyr310Tyr in Exon 11 of MYH7: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 0.3% (13/3738) of Afric an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS; dbSNP rs111626355).
Invitae RCV001083391 SCV000623760 benign Hypertrophic cardiomyopathy 2020-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619517 SCV000737370 likely benign Cardiovascular phenotype 2016-05-26 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Athena Diagnostics Inc RCV000712364 SCV000842838 benign not provided 2018-03-23 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000758031 SCV000900858 likely benign Cardiomyopathy 2017-07-12 criteria provided, single submitter clinical testing
Color Health, Inc RCV000758031 SCV001350814 benign Cardiomyopathy 2018-12-10 criteria provided, single submitter clinical testing

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