ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44592C>T (p.Val14864=)

gnomAD frequency: 0.00003  dbSNP: rs397517578
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040249 SCV000063940 likely benign not specified 2011-11-14 criteria provided, single submitter clinical testing Val12296Val in exon 191 of TTN: This variant does not change an amino acid and d oes not affect the splice consensus sequence. This makes a disease causing role very unlikely. Val12296Val in exon 191 of TTN (allele frequency = n/a)
Labcorp Genetics (formerly Invitae), Labcorp RCV002054793 SCV002448316 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-14 criteria provided, single submitter clinical testing

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