ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.810C>T (p.Asp270=)

dbSNP: rs763026916
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 RCV001463148 SCV001667083 likely benign Arrhythmogenic right ventricular dysplasia 5 2022-11-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711659 SCV005264597 likely benign not provided criteria provided, single submitter not provided

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