ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.89207G>C (p.Gly29736Ala)

gnomAD frequency: 0.00001  dbSNP: rs1454670479
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000643872 SCV000765559 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-09-12 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000993504 SCV001146525 uncertain significance not provided 2019-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477428 SCV002791215 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 2021-09-01 criteria provided, single submitter clinical testing

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