ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.18037T>C (p.Tyr6013His)

gnomAD frequency: 0.00004  dbSNP: rs548015673
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001508479 SCV004229374 uncertain significance not provided 2022-12-19 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.
Revvity Omics, Revvity RCV001508479 SCV003819759 uncertain significance not provided 2019-05-21 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001508479 SCV001714659 uncertain significance not provided 2019-10-09 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769074 SCV000900447 uncertain significance Cardiomyopathy 2017-01-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000228104 SCV000286470 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-01-23 criteria provided, single submitter clinical testing
GeneDx RCV001508479 SCV000238247 likely benign not provided 2018-10-11 criteria provided, single submitter clinical testing

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