ClinVar Miner

Submissions for variant NM_000505.4(F12):c.1019-28T>C

gnomAD frequency: 0.55815  dbSNP: rs17876031
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 RCV001539033 SCV001756764 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001703013 SCV001933674 benign Hereditary angioedema type 3 2021-08-10 criteria provided, single submitter clinical testing

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