ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.28678G>A (p.Asp9560Asn)

gnomAD frequency: 0.00014  dbSNP: rs771843862
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Total submissions: 7
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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 RCV000220157 SCV000272613 benign not specified 2019-07-08 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
GeneDx RCV001722170 SCV000718216 likely benign not provided 2018-08-21 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170637 SCV001333229 benign Cardiomyopathy 2018-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840377 SCV002101926 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840378 SCV002101927 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840379 SCV002101928 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840376 SCV002101929 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing

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