ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69492G>A (p.Val23164=)

gnomAD frequency: 0.00005  dbSNP: rs751921225
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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 RCV002073278 SCV002324518 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-04-30 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699971 SCV001922892 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727940 SCV001971581 likely benign not provided no assertion criteria provided clinical testing

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