ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.*719G>T

gnomAD frequency: 0.05531  dbSNP: rs3796308
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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 RCV000376019 SCV000441319 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000350789 SCV000484023 benign Xeroderma pigmentosum 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710927 SCV005264606 likely benign not provided criteria provided, single submitter not provided

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