ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.43185C>A (p.Ala14395=)

gnomAD frequency: 0.00001  dbSNP: rs1057519234
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000416026 SCV000493657 uncertain significance not provided 2016-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001427198 SCV001629872 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-03-28 criteria provided, single submitter clinical testing

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