ClinVar Miner

Submissions for variant NM_198129.4(LAMA3):c.565+64G>T

gnomAD frequency: 0.15790  dbSNP: rs9955745
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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 RCV001543057 SCV001761554 benign Junctional epidermolysis bullosa, non-Herlitz type 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543058 SCV001761555 benign Junctional epidermolysis bullosa gravis of Herlitz 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543059 SCV001761556 benign Laryngo-onycho-cutaneous syndrome 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001595099 SCV001828302 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001595099 SCV005251307 benign not provided criteria provided, single submitter not provided

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