ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1709C>T (p.Ala570Val) (rs146690035)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172490 SCV000051238 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000039946 SCV000732213 likely benign not specified 2018-02-06 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 RCV000464324 SCV000555633 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-11-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039946 SCV000063637 likely benign not specified 2013-02-01 criteria provided, single submitter clinical testing Ala570Val in exon 11 of TTN: This variant is not expected to have clinical signi ficance because it has been identified in 1% (4/394) of Han Chinese control chro mosomes from a broad population by the 1000 Genomes Project (dbSNP rs146690035). Ala570Val in exon 11 of TTN (rs145590035; allele frequency = 1.0%, 3/194)

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