ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.22628C>T (p.Pro7543Leu)

gnomAD frequency: 0.00003  dbSNP: rs560272834
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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 RCV000546839 SCV000642820 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-03-13 criteria provided, single submitter clinical testing
GeneDx RCV001556090 SCV001777608 likely benign not provided 2019-12-05 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001556090 SCV003825574 uncertain significance not provided 2019-12-08 criteria provided, single submitter clinical testing

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