ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.84225T>C (p.Ser28075=)

gnomAD frequency: 0.00001  dbSNP: rs753003337
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002073284 SCV002489069 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-07-18 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700535 SCV001917502 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702254 SCV001928978 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702254 SCV001967560 likely benign not provided no assertion criteria provided clinical testing

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