ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.*217G>A

gnomAD frequency: 0.02517  dbSNP: rs116757981
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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 RCV000272367 SCV000441311 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000261586 SCV000484019 likely benign Xeroderma pigmentosum 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001712077 SCV001945501 benign not provided 2018-06-14 criteria provided, single submitter clinical testing

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