ClinVar Miner

Submissions for variant NM_000228.3(LAMB3):c.184-70A>G

gnomAD frequency: 0.57810  dbSNP: rs2076357
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV001713112 SCV005286869 benign not provided criteria provided, single submitter not provided
GeneDx RCV001713112 SCV001939614 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001537783 SCV001754740 benign Junctional epidermolysis bullosa, non-Herlitz type 2021-07-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001537759 SCV001754707 benign Junctional epidermolysis bullosa gravis of Herlitz 2021-07-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001537758 SCV001754706 benign Amelogenesis imperfecta type 1A 2021-07-08 criteria provided, single submitter clinical testing

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