ClinVar Miner

Submissions for variant NM_002291.3(LAMB1):c.1370-13T>G

gnomAD frequency: 0.00041  dbSNP: rs199712943
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432649 SCV000535929 likely benign not provided 2020-01-09 criteria provided, single submitter clinical testing In silico analysis, which includes splice predictors and evolutionary conservation, supports a deleterious effect
Invitae RCV000432649 SCV002387688 benign not provided 2024-01-12 criteria provided, single submitter clinical testing

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