ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.65786A>G (p.Lys21929Arg)

gnomAD frequency: 0.00001  dbSNP: rs1465791266
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597039 SCV000702878 uncertain significance not provided 2016-11-15 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000597039 SCV004229398 uncertain significance not provided 2023-08-10 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools disagree on the variant's effect on normal protein function.

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