ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.2276-161G>C

gnomAD frequency: 0.02399  dbSNP: rs75392135
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001546723 SCV001766294 likely benign not provided 2018-12-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001546723 SCV005226448 likely benign not provided criteria provided, single submitter not provided

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