ClinVar Miner

Submissions for variant NM_198129.4(LAMA3):c.2304+67G>T

gnomAD frequency: 0.79861  dbSNP: rs6507956
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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 RCV001542848 SCV001761231 benign Junctional epidermolysis bullosa, non-Herlitz type 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001542849 SCV001761232 benign Junctional epidermolysis bullosa gravis of Herlitz 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001542927 SCV001761345 benign Laryngo-onycho-cutaneous syndrome 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001655833 SCV001867247 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001655833 SCV005251325 benign not provided criteria provided, single submitter not provided

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