ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4179A>G (p.Gln1393=) (rs6546836)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000417950 SCV000524246 benign not specified 2016-09-09 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 RCV000417950 SCV000711849 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Gln1392Gln in exon 8 of ALMS1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 78.59% (1039/1322) of African chromosomes by the 1000 Genomes Project (Phase 3; dbSNP rs6546836).
Invitae RCV000860242 SCV001000224 benign Alstrom syndrome 2020-12-05 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000860242 SCV001769054 benign Alstrom syndrome 2021-07-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000860242 SCV001463041 benign Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000417950 SCV001743662 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000417950 SCV001922757 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000417950 SCV001957670 benign not specified no assertion criteria provided clinical testing

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