ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6854G>C (p.Arg2285Pro) (rs6546839)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439494 SCV000524251 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 RCV000439494 SCV000711862 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Arg2284Pro in exon 8 of ALMS1: This variant is not expected to have clinical s ignificance because it has been identified in 87.82% (1161/1322) of African chro mosomes by the 1000 Genomes Project (Phase 3; dbSNP rs6546839).
Invitae RCV000986774 SCV001000228 benign Alstrom syndrome 2020-12-05 criteria provided, single submitter clinical testing
Mendelics RCV000986774 SCV001135896 benign Alstrom syndrome 2019-05-28 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000986774 SCV001769059 benign Alstrom syndrome 2021-07-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000986774 SCV001463059 benign Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000439494 SCV001925919 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000439494 SCV001963507 benign not specified no assertion criteria provided clinical testing

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