ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.*779A>C

gnomAD frequency: 0.19544  dbSNP: rs13069
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000296687 SCV000441322 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000296687 SCV000441323 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000287769 SCV000484025 likely benign Xeroderma pigmentosum 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710928 SCV005264607 likely benign not provided criteria provided, single submitter not provided

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