ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.27074C>T (p.Pro9025Leu)

gnomAD frequency: 0.00001  dbSNP: rs1203714029
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002477893 SCV002784989 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 2021-11-02 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700880 SCV001918920 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700880 SCV001973889 uncertain significance not provided no assertion criteria provided clinical testing

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