ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.*924T>C

gnomAD frequency: 0.02523  dbSNP: rs79741000
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000366532 SCV000441327 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000347440 SCV000484026 likely benign Xeroderma pigmentosum 2016-06-14 criteria provided, single submitter clinical testing

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