ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.30642A>G (p.Pro10214=)

gnomAD frequency: 0.00004  dbSNP: rs397517533
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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 RCV000040110 SCV000063801 likely benign not specified 2012-10-08 criteria provided, single submitter clinical testing Pro8970Pro in exon 108 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. Pro8970Pro in exon 108 of TTN (allele frequ ency = n/a)
Labcorp Genetics (formerly Invitae), Labcorp RCV001393157 SCV001594813 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-08-10 criteria provided, single submitter clinical testing

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