ClinVar Miner

Submissions for variant NM_198129.4(LAMA3):c.1942-74G>C

gnomAD frequency: 0.79748  dbSNP: rs2155841
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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 RCV001542842 SCV001761225 benign Junctional epidermolysis bullosa, non-Herlitz type 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001542843 SCV001761226 benign Junctional epidermolysis bullosa gravis of Herlitz 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001542844 SCV001761227 benign Laryngo-onycho-cutaneous syndrome 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001712991 SCV001942292 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001712991 SCV005251321 benign not provided criteria provided, single submitter not provided

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