ClinVar Miner

Submissions for variant NM_198129.3(LAMA3):c.8941C>T (p.Gln2981Ter) (rs772038362)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520973 SCV000616762 pathogenic not provided 2017-07-14 criteria provided, single submitter clinical testing The Q1372X variant in the LAMA3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q1372X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret Q1372X as a pathogenic variant.
Fulgent Genetics,Fulgent Genetics RCV000763025 SCV000893492 pathogenic Laryngoonychocutaneous syndrome; Junctional epidermolysis bullosa gravis of Herlitz; Adult junctional epidermolysis bullosa 2018-10-31 criteria provided, single submitter clinical testing
Counsyl RCV000984191 SCV001132241 likely pathogenic Adult junctional epidermolysis bullosa 2014-01-02 no assertion criteria provided clinical testing
Counsyl RCV000984192 SCV001132242 likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz 2014-01-02 no assertion criteria provided clinical testing

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