ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.86700C>T (p.Asn28900=) (rs727504793)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000156119 SCV000205833 likely benign not specified 2013-11-11 criteria provided, single submitter clinical testing Asn26332Asn 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. It has was absent from large population stud ies. Asn26332Asn in exon 275 of TTN (allele frequency = n/a)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727138 SCV000706074 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000727138 SCV000716566 likely benign not provided 2020-09-11 criteria provided, single submitter clinical testing
Invitae RCV001086613 SCV000765102 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing

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