ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.2354A>G (p.Glu785Gly) (rs17848880)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233922 SCV000290078 benign Alstrom syndrome 2020-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000600687 SCV000715093 benign not specified 2017-05-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000600687 SCV001365611 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Glu784Gly in exon 8 of ALMS1: This variant is not expected to have clinical significance because it has been identified in 3.17% (273/8622) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs17848880).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000600687 SCV002015066 likely benign not specified 2021-10-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV000233922 SCV001458914 benign Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573659 SCV001799867 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000600687 SCV001917614 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573659 SCV001964639 likely benign not provided no assertion criteria provided clinical testing

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