ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.919G>A (p.Val307Met)

gnomAD frequency: 0.00006  dbSNP: rs371056974
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000462708 SCV000543067 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-09-15 criteria provided, single submitter clinical testing
GeneDx RCV001653822 SCV001871097 likely benign not provided 2021-01-21 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001653822 SCV003826058 uncertain significance not provided 2023-10-04 criteria provided, single submitter clinical testing

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