ClinVar Miner

Submissions for variant NM_000228.3(LAMB3):c.298+50T>A

gnomAD frequency: 0.28812  dbSNP: rs2076355
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242438 SCV000303080 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001537752 SCV001754700 benign Amelogenesis imperfecta type 1A 2021-07-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001537753 SCV001754701 benign Junctional epidermolysis bullosa gravis of Herlitz 2021-07-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001537754 SCV001754702 benign Junctional epidermolysis bullosa, non-Herlitz type 2021-07-08 criteria provided, single submitter clinical testing
GeneDx RCV001594887 SCV001829399 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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