ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.*312A>C

gnomAD frequency: 0.04223  dbSNP: rs11920099
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000324779 SCV000441315 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000385529 SCV000484021 likely benign Xeroderma pigmentosum 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710925 SCV005264603 likely benign not provided criteria provided, single submitter not provided

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