ClinVar Miner

Submissions for variant NM_000228.3(LAMB3):c.1486-18G>A

gnomAD frequency: 0.12625  dbSNP: rs2076350
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243210 SCV000303072 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001537703 SCV001754647 benign Amelogenesis imperfecta type 1A 2021-07-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001537704 SCV001754648 benign Junctional epidermolysis bullosa gravis of Herlitz 2021-07-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001537705 SCV001754649 benign Junctional epidermolysis bullosa, non-Herlitz type 2021-07-08 criteria provided, single submitter clinical testing
GeneDx RCV001711528 SCV001939621 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001711528 SCV002404421 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711528 SCV005286846 benign not provided criteria provided, single submitter not provided

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