ClinVar Miner

Submissions for variant NM_032578.3(MYPN):c.465C>G (p.Ala155=) (rs142867001)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000024518 SCV000563299 benign not provided 2018-12-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000615450 SCV000711701 likely benign not specified 2017-06-28 criteria provided, single submitter clinical testing p.Ala155Ala in exon 3 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% (72/24018) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.br oadinstitute.org/; dbSNP rs142867001).
Ambry Genetics RCV000618951 SCV000737198 likely benign Cardiovascular phenotype 2016-05-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Leiden Muscular Dystrophy (MYPN) RCV000024518 SCV000045822 not provided not provided 2012-04-27 no assertion provided curation

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