ClinVar Miner

Submissions for variant NM_002291.3(LAMB1):c.5225-8C>A

gnomAD frequency: 0.00009  dbSNP: rs778153007
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000890938 SCV001034717 likely benign not provided 2023-11-17 criteria provided, single submitter clinical testing
GeneDx RCV000890938 SCV001792906 uncertain significance not provided 2020-10-26 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown

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