ClinVar Miner

Submissions for variant NM_198129.4(LAMA3):c.9211-21C>T

gnomAD frequency: 0.51885  dbSNP: rs2288592
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244229 SCV000303066 likely benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001542852 SCV001761241 benign Junctional epidermolysis bullosa, non-Herlitz type 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001542853 SCV001761242 benign Junctional epidermolysis bullosa gravis of Herlitz 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001542854 SCV001761243 benign Laryngo-onycho-cutaneous syndrome 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001689786 SCV001909385 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001689786 SCV005215203 likely benign not provided criteria provided, single submitter not provided

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