ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.90159A>C (p.Lys30053Asn) (rs886039117)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000251890 SCV000320139 uncertain significance Cardiovascular phenotype 2015-10-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence
GeneDx RCV000827153 SCV000968776 likely benign not provided 2018-05-07 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 RCV000642979 SCV000764666 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-11-06 criteria provided, single submitter clinical testing

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