ClinVar Miner

Submissions for variant NM_000227.5(LAMA3):c.4114C>T (p.Gln1372Ter) (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 2019-02-28 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics,Fulgent Genetics RCV000763025 SCV000893492 pathogenic Laryngo-onycho-cutaneous syndrome; Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type 2018-10-31 criteria provided, single submitter clinical testing
Counsyl RCV000984191 SCV001132241 likely pathogenic Junctional epidermolysis bullosa, non-Herlitz type 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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