ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.92488G>A (p.Val30830Ile)

gnomAD frequency: 0.00001  dbSNP: rs376287060
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559802 SCV000643903 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-05-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003389721 SCV001152660 uncertain significance not provided 2023-10-01 criteria provided, single submitter clinical testing TTN: PM2
Fulgent Genetics, Fulgent Genetics RCV002491054 SCV002778390 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 2021-08-10 criteria provided, single submitter clinical testing

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