ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.1144A>G (p.Thr382Ala) (rs28730849)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082528 SCV000261783 benign Alstrom syndrome 2020-12-05 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224192 SCV000281160 benign not provided 2016-01-11 criteria provided, single submitter clinical testing
GeneDx RCV000444233 SCV000532109 benign not specified 2016-10-06 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.
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445400 SCV000536962 benign Monogenic diabetes 2019-02-08 criteria provided, single submitter research ACMG criteria: BP4 (REVEL score 0.007 + 9 predictors), BA1 (5.1% in African gnomAD), BS2 (36 homozygotes in gnomAD), BP1 (missense in gene with truncating cause disease)= Benign
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000444233 SCV000967032 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Thr382Ala in exon 5 of ALMS1: This variant is not expected to have clinical si gnificance because it has been identified in 7.19% (95/1322) of African chromoso mes by the 1000 Genomes Project (Phase 3; dbSNP rs28730849).
Natera, Inc. RCV001082528 SCV001458903 benign Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000444233 SCV002034128 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000224192 SCV002035702 likely benign not provided no assertion criteria provided clinical testing

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