ClinVar Miner

Submissions for variant NM_032578.3(MYPN):c.1104C>T (p.Gly368=) (rs144764983)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000180994 SCV000170611 benign not specified 2014-05-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000180994 SCV000269382 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Gly368Gly in exon 5 of MYPN: 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 0.3% (30/8600) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs144764983).
Invitae RCV000024529 SCV000291106 benign not provided 2019-02-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617653 SCV000736725 likely benign Cardiovascular phenotype 2016-02-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000226271 SCV000743678 likely benign Dilated cardiomyopathy 1KK 2016-11-28 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (MYPN) RCV000024529 SCV000045833 not provided not provided 2012-04-27 no assertion provided curation
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000226271 SCV000732941 likely benign Dilated cardiomyopathy 1KK no assertion criteria provided clinical testing

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