ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.855C>G (p.Leu285=)

gnomAD frequency: 0.00001  dbSNP: rs1337055313
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002108819 SCV002433763 likely benign Arrhythmogenic right ventricular dysplasia 5 2020-11-27 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003533129 SCV004359877 likely benign Cardiomyopathy 2021-12-15 criteria provided, single submitter clinical testing

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