ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.28170C>T (p.Leu9390=)

gnomAD frequency: 0.00026  dbSNP: rs149910892
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441613 SCV000520776 benign not specified 2016-04-13 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 RCV001087475 SCV000642922 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-15 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000730352 SCV000858081 uncertain significance not provided 2017-11-15 criteria provided, single submitter clinical testing

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