ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.37876C>A (p.Pro12626Thr)

gnomAD frequency: 0.00042  dbSNP: rs762460746
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997487 SCV001152944 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing TTN: BP4
Fulgent Genetics, Fulgent Genetics RCV002479179 SCV002775082 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 2021-10-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003994187 SCV004813364 likely benign not specified 2024-02-26 criteria provided, single submitter clinical testing

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