ClinVar Miner

Submissions for variant NM_000228.3(LAMB3):c.3432A>G (p.Ser1144=)

gnomAD frequency: 0.44327  dbSNP: rs1049607
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250773 SCV000303082 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000286254 SCV000353579 benign Junctional epidermolysis bullosa 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001511027 SCV001718200 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001537769 SCV001754726 benign Amelogenesis imperfecta type 1A 2021-07-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001537770 SCV001754727 benign Junctional epidermolysis bullosa gravis of Herlitz 2021-07-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001537771 SCV001754728 benign Junctional epidermolysis bullosa, non-Herlitz type 2021-07-08 criteria provided, single submitter clinical testing
GeneDx RCV001511027 SCV001759291 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001511027 SCV005284898 benign not provided criteria provided, single submitter not provided

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