ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.41309C>T (p.Thr13770Met)

gnomAD frequency: 0.00004  dbSNP: rs774214497
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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 RCV000460789 SCV000542792 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-07-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139626 SCV003827314 uncertain significance not provided 2021-03-23 criteria provided, single submitter clinical testing

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