ClinVar Miner

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

gnomAD frequency: 0.30140  dbSNP: rs2076355
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV001594887 SCV005286867 benign not provided criteria provided, single submitter not provided
GeneDx RCV001594887 SCV001829399 benign not provided 2015-03-03 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
Genome-Nilou Lab RCV001537753 SCV001754701 benign Junctional epidermolysis bullosa gravis of Herlitz 2021-07-08 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
PreventionGenetics, part of Exact Sciences RCV000242438 SCV000303080 benign not specified criteria provided, single submitter clinical testing

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