ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.24609C>T (p.Ser8203=)

gnomAD frequency: 0.00002  dbSNP: rs397517509
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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 RCV000040007 SCV000063698 likely benign not specified 2011-12-27 criteria provided, single submitter clinical testing Ser6959Ser in exon 82 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. Ser6959Ser in exon 82 of TTN (allele frequenc y = n/a)
Invitae RCV002513561 SCV003481784 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-07-06 criteria provided, single submitter clinical testing

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