ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.92821G>A (p.Ala30941Thr)

gnomAD frequency: 0.00001  dbSNP: rs777150584
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000643573 SCV000765260 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477425 SCV002793776 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-10-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003140010 SCV003826583 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital RCV003459534 SCV004190120 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2J criteria provided, single submitter clinical testing

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