ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.12801A>T (p.Leu4267Phe)

gnomAD frequency: 0.00001  dbSNP: rs750553032
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000555888 SCV000642665 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-06-15 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004791552 SCV005408904 uncertain significance not provided 2024-04-19 criteria provided, single submitter clinical testing BP4

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