ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.74331C>T (p.Asp24777=) (rs368530092)

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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 RCV000154920 SCV000204602 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Asp22209Asp in exon 275 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence. It has been identified in 1/3174 African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; rs368530092). Asp22209Asp in exon 275 of TTN (r s368530092; allele frequency 1/3174) **
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724584 SCV000228573 uncertain significance not provided 2015-02-10 criteria provided, single submitter clinical testing
Invitae RCV000643792 SCV000765479 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-02 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769943 SCV000901369 likely benign Cardiomyopathy 2016-09-22 criteria provided, single submitter clinical testing

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