ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.72171A>G (p.Pro24057=)

dbSNP: rs397517692
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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 RCV000040580 SCV000064271 likely benign not specified 2012-08-14 criteria provided, single submitter clinical testing Pro21489Pro in exon 275 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. Pro21489Pro in exon 275 of TTN (allele fre quency = n/a)
Labcorp Genetics (formerly Invitae), Labcorp RCV002513567 SCV002985443 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-09-12 criteria provided, single submitter clinical testing

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