ClinVar Miner

Submissions for variant NM_000228.3(LAMB3):c.2702-12dup

gnomAD frequency: 0.95488  dbSNP: rs397807887
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253478 SCV000303077 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000388135 SCV000353601 benign Junctional epidermolysis bullosa 2016-06-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589851 SCV000696000 benign not provided 2016-12-05 criteria provided, single submitter clinical testing Variant summary: The LAMB3 c.2702-12dupG variant involves the alteration of a non-conserved intronic nucleotide. Mutation Taster predicts a benign outcome for this variant. In addition, 4/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 114615/119804 control chromosomes (including 54857 homozygotes) at a frequency of 0.9566876, which is approximately 1027 times the estimated maximal expected allele frequency of a pathogenic LAMB3 variant (0.0009317), thus this variant is a benign polymorphism and allele dupG is the major allele at this cDNA position. In addition, a clinical diagnostic laboratory has also classified this variant as benign. Taken together, this variant is classified as Benign.
GeneDx RCV000589851 SCV001913303 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730607 SCV001981272 benign Junctional epidermolysis bullosa gravis of Herlitz 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730608 SCV001981273 benign Junctional epidermolysis bullosa, non-Herlitz type 2021-08-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000589851 SCV002454423 benign not provided 2024-02-01 criteria provided, single submitter clinical testing

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