ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.*1160A>G

gnomAD frequency: 0.01099  dbSNP: rs9842062
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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 RCV000321675 SCV000441332 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000404690 SCV000484027 likely benign Xeroderma pigmentosum 2016-06-14 criteria provided, single submitter clinical testing

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