ClinVar Miner

Submissions for variant NM_000228.3(LAMB3):c.2556+60C>T

gnomAD frequency: 0.27290  dbSNP: rs3737913
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001537778 SCV001754735 benign Amelogenesis imperfecta type 1A 2021-07-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001537779 SCV001754736 benign Junctional epidermolysis bullosa gravis of Herlitz 2021-07-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001537780 SCV001754737 benign Junctional epidermolysis bullosa, non-Herlitz type 2021-07-08 criteria provided, single submitter clinical testing
GeneDx RCV001673148 SCV001890781 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001673148 SCV005284904 benign not provided criteria provided, single submitter not provided

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