ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.4905C>T (p.Asn1635=) (rs143048583)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154755 SCV000204435 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Asn1635Asn in exon 33 of MYH6: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 1/7020 European Ame rican chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washingto n.edu/EVS; dbSNP rs143048583). Asn1635Asn in exon 33 of MYH6 (rs143048583; alle le frequency = 1/7020) **
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724141 SCV000229656 uncertain significance not provided 2014-09-01 criteria provided, single submitter clinical testing
Invitae RCV001089380 SCV000287433 likely benign Familial hypertrophic cardiomyopathy 14 2020-12-02 criteria provided, single submitter clinical testing
GeneDx RCV000724141 SCV000715784 likely benign not provided 2020-11-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617571 SCV000736204 likely benign Cardiovascular phenotype 2015-12-03 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000724141 SCV001739952 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000154755 SCV001918883 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000724141 SCV001931364 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000724141 SCV001951199 likely benign not provided no assertion criteria provided clinical testing

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