ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.35387C>A (p.Ala11796Glu)

gnomAD frequency: 0.00013  dbSNP: rs200321949
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172358 SCV000055022 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000546201 SCV000643043 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-04-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000172358 SCV001152962 uncertain significance not provided 2024-07-01 criteria provided, single submitter clinical testing TTN: PM2, BP4

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