ClinVar Miner

Submissions for variant NM_198129.4(LAMA3):c.4137-87A>G

gnomAD frequency: 0.47865  dbSNP: rs867448
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001536575 SCV001753353 benign not provided 2021-05-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001542934 SCV001761352 benign Junctional epidermolysis bullosa, non-Herlitz type 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001542935 SCV001761353 benign Junctional epidermolysis bullosa gravis of Herlitz 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001542936 SCV001761354 benign Laryngo-onycho-cutaneous syndrome 2021-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001536575 SCV005251342 benign not provided criteria provided, single submitter not provided

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