ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.40335C>T (p.Leu13445=)

gnomAD frequency: 0.00002  dbSNP: rs727504696
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Total submissions: 3
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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 RCV000155974 SCV000205686 likely benign not specified 2013-10-14 criteria provided, single submitter clinical testing Leu10877Leu in exon 166 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. Leu10877Leu in exon 16 of TTN (allele frequ ency = n/a)
Labcorp Genetics (formerly Invitae), Labcorp RCV000643260 SCV000764947 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-27 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770048 SCV000901474 uncertain significance Cardiomyopathy 2015-09-21 criteria provided, single submitter clinical testing

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