ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser) (rs34927702)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001083350 SCV000261781 benign Alstrom syndrome 2019-12-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224052 SCV000280731 benign not provided 2015-12-22 criteria provided, single submitter clinical testing
GeneDx RCV000437592 SCV000529303 benign not specified 2016-10-12 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 RCV000445530 SCV000536993 benign Monogenic diabetes 2019-02-08 criteria provided, single submitter research ACMG criteria: BP4 (REVEL 0.064 + 7 predictors; not using PP3/3 predictors), BA1 (6.3% MAF in gnomAD Africans), BS2 (56 homozygotes in gnomAD), BP1 (most ALMS1 pathogenic variants are truncating)=benign
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000437592 SCV000711831 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Gly3755Ser in exon 16 of ALMS1: This variant is not expected to have clinical significance because it has been identified in 6.45% (623/9664) of African chrom osomes by the Exome Aggregation Consortium (ExAC, ; dbSNP rs34927702).
Athena Diagnostics Inc RCV000224052 SCV001142996 benign not provided 2019-05-14 criteria provided, single submitter clinical testing

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