ClinVar Miner

Submissions for variant NM_032578.3(MYPN):c.2190G>A (p.Thr730=) (rs71584492)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000223203 SCV000270586 likely benign not specified 2017-05-18 criteria provided, single submitter clinical testing p.Thr730Thr in exon 12 of MYPN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.1% (24/24016) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.b roadinstitute.org/; dbSNP rs71584492).
GeneDx RCV000223203 SCV000729524 likely benign not specified 2017-04-03 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.
Ambry Genetics RCV000621051 SCV000736232 likely benign Cardiovascular phenotype 2016-03-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000024500 SCV001004399 likely benign not provided 2018-10-01 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (MYPN) RCV000024500 SCV000045804 not provided not provided 2012-04-27 no assertion provided curation

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