ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val) (rs78102263)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001088077 SCV000290088 likely benign Alstrom syndrome 2020-12-02 criteria provided, single submitter clinical testing
GeneDx RCV000520376 SCV000620230 uncertain significance not provided 2021-06-15 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV001172521 SCV001335574 likely benign Monogenic diabetes 2018-12-07 criteria provided, single submitter research ACMG criteria: BP4 (REVEL 0.031 + 6 predictors; not using PP3/3 predictors) + BP1 (truncating cause disease) = likely benign
Natera, Inc. RCV001088077 SCV001453455 likely benign Alstrom syndrome 2020-01-10 no assertion criteria provided clinical testing

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