ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11684G>A (p.Ser3895Asn)

gnomAD frequency: 0.00001  dbSNP: rs769466475
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538317 SCV000642641 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476156 SCV002782537 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 2021-08-27 criteria provided, single submitter clinical testing

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