ClinVar Miner

Submissions for variant NM_000258.2(MYL3):c.477G>T (p.Thr159=) (rs148365503)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000216208 SCV000270487 likely benign not specified 2018-02-20 criteria provided, single submitter clinical testing p.Thr159Thr in exon 4 of MYL3: 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 0.02% (8/33578) of Latino chromosomes by the Genome Aggregation Database (gnomAD, http://exac.broa dinstitute.org; dbSNP rs148365503). ACMG/AMP Criteria applied: BS1, BP4, BP7.
GeneDx RCV000216208 SCV000513824 benign not specified 2015-07-28 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.
Invitae RCV000463239 SCV000560095 likely benign Hypertrophic cardiomyopathy 2017-07-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618975 SCV000737364 likely benign Cardiovascular phenotype 2015-10-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,Rarity in general population databases (dbsnp, esp, 1000 genomes)

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