ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.30717A>C (p.Lys10239Asn)

gnomAD frequency: 0.00005  dbSNP: rs553520141
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000868527 SCV001009867 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-11-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501280 SCV002811274 likely benign 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 2021-09-08 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003141879 SCV003820246 uncertain significance not provided 2020-11-17 criteria provided, single submitter clinical testing

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