ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.22842A>G (p.Leu7614=)

gnomAD frequency: 0.00001  dbSNP: rs727504963
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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 RCV000156374 SCV000206092 likely benign not specified 2014-02-20 criteria provided, single submitter clinical testing Leu6370Leu in exon 76 of TTN: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. Leu6370Leu in exon 76 of TTN (allele frequ ency = n/a)
Labcorp Genetics (formerly Invitae), Labcorp RCV005222782 SCV005867508 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-04-10 criteria provided, single submitter clinical testing

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