ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.51642G>C (p.Glu17214Asp)

gnomAD frequency: 0.00009  dbSNP: rs372443762
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV006459729 SCV007343255 uncertain significance not specified 2026-01-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139996 SCV003824288 uncertain significance not provided 2023-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483845 SCV002789428 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 2021-08-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000643323 SCV000765010 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-21 criteria provided, single submitter clinical testing

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