ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.29227G>A (p.Gly9743Ser)

gnomAD frequency: 0.00001  dbSNP: rs368073588
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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 RCV000643099 SCV000764786 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-09-12 criteria provided, single submitter clinical testing
GeneDx RCV001577490 SCV001804878 likely benign not provided 2019-01-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001577490 SCV004011276 uncertain significance not provided 2023-05-01 criteria provided, single submitter clinical testing TTN: PM2, BP5

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