ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.83272T>C (p.Phe27758Leu)

gnomAD frequency: 0.00006  dbSNP: rs188323108
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085404 SCV000764989 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825689 SCV000967126 benign not specified 2018-06-04 criteria provided, single submitter clinical testing p.Phe25190Leu in exon 275 of TTN: This variant is classified as benign because i t has been identified in 0.4% (80/18522) of East Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs1883231 08). ACMG/AMP Criteria applied: BA1, PP3.
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852804 SCV000995532 benign Amyloidogenic transthyretin amyloidosis 2019-05-20 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000643302 SCV001146512 benign not provided 2019-06-27 criteria provided, single submitter clinical testing
Genetics and Genomics Program, Sidra Medicine RCV001293123 SCV001434113 uncertain significance Primary dilated cardiomyopathy criteria provided, single submitter research
GeneDx RCV000643302 SCV001763754 likely benign not provided 2019-11-04 criteria provided, single submitter clinical testing

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