ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.12089G>A (p.Arg4030Lys) (rs1052161)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434771 SCV000524256 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 RCV000434771 SCV000711901 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Arg4029Lys in exon 19 of ALMS1: This variant is not expected to have clinical significance because it has been identified in 75.39% (6458/8566) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs1052161).
Invitae RCV000860051 SCV000999966 benign Alstrom syndrome 2020-12-04 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000860051 SCV001769210 benign Alstrom syndrome 2021-07-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000860051 SCV001455030 benign Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000434771 SCV001740869 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000434771 SCV001924613 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000434771 SCV001930912 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000434771 SCV001952595 benign not specified no assertion criteria provided clinical testing

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