ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.*115T>C

gnomAD frequency: 0.65275  dbSNP: rs1043943
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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 RCV000366934 SCV000441310 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000374920 SCV000484018 benign Xeroderma pigmentosum 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001709613 SCV001937333 benign not provided 2018-06-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001709613 SCV005264601 likely benign not provided criteria provided, single submitter not provided

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