ClinVar Miner

Submissions for variant NM_198129.4(LAMA3):c.1183-110C>T

gnomAD frequency: 0.16922  dbSNP: rs6507907
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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 RCV001542839 SCV001761222 benign Junctional epidermolysis bullosa, non-Herlitz type 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001542840 SCV001761223 benign Junctional epidermolysis bullosa gravis of Herlitz 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001542841 SCV001761224 benign Laryngo-onycho-cutaneous syndrome 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001647381 SCV001858041 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001647381 SCV005251313 benign not provided criteria provided, single submitter not provided

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