ClinVar Miner

Submissions for variant NM_000228.3(LAMB3):c.2945A>G (p.Asp982Gly)

gnomAD frequency: 0.00116  dbSNP: rs140769823
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671935 SCV000796976 uncertain significance Junctional epidermolysis bullosa gravis of Herlitz 2018-01-05 criteria provided, single submitter clinical testing
Invitae RCV000882135 SCV001025356 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001096869 SCV001253114 uncertain significance Junctional epidermolysis bullosa 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen RCV000882135 SCV003916548 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing LAMB3: BS2

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