ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.15277C>G (p.Leu5093Val)

dbSNP: rs764663290
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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 RCV000643563 SCV000765250 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-16 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001508482 SCV001714663 uncertain significance not provided 2019-12-18 criteria provided, single submitter clinical testing

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