ClinVar Miner

Submissions for variant NM_002291.3(LAMB1):c.855A>G (p.Gly285=)

gnomAD frequency: 0.00091  dbSNP: rs140773514
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000894826 SCV001038835 benign not provided 2024-11-11 criteria provided, single submitter clinical testing
GeneDx RCV000894826 SCV001818303 likely benign not provided 2020-10-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000894826 SCV005221465 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003922840 SCV004744495 benign LAMB1-related disorder 2019-05-07 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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