ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.23214T>C (p.Asp7738=)

dbSNP: rs727503648
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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 RCV000152398 SCV000201402 likely benign not specified 2013-08-23 criteria provided, single submitter clinical testing Asp6494Asp in exon 77 of TTN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence.
Labcorp Genetics (formerly Invitae), Labcorp RCV002056015 SCV002489194 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-11-26 criteria provided, single submitter clinical testing

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