ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.60869T>C (p.Val20290Ala)

gnomAD frequency: 0.00004  dbSNP: rs550655820
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000475525 SCV000542605 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-10-30 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000768970 SCV000900343 uncertain significance Cardiomyopathy 2020-12-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139615 SCV003826642 uncertain significance not provided 2022-09-20 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003139615 SCV004225849 uncertain significance not provided 2023-05-15 criteria provided, single submitter clinical testing

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