ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.24792G>A (p.Pro8264=)

gnomAD frequency: 0.00004  dbSNP: rs767137418
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000349264 SCV000333310 uncertain significance not provided 2015-10-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088994 SCV001013044 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-13 criteria provided, single submitter clinical testing

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