ClinVar Miner

Submissions for variant NM_002291.3(LAMB1):c.2542G>C (p.Ala848Pro)

gnomAD frequency: 0.00371  dbSNP: rs145746791
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000514497 SCV000528675 benign not provided 2019-10-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000426674 SCV000595524 likely benign not specified 2016-01-05 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514497 SCV000610096 likely benign not provided 2017-05-15 criteria provided, single submitter clinical testing
Invitae RCV000514497 SCV001043965 benign not provided 2023-11-23 criteria provided, single submitter clinical testing

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