ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.6192T>G (p.Phe2064Leu)

gnomAD frequency: 0.00001  dbSNP: rs759437501
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552400 SCV000643476 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-03-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139816 SCV003819140 uncertain significance not provided 2020-10-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV003139816 SCV004229394 uncertain significance not provided 2022-09-27 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 predict that this variant is not damaging.

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