ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.8835C>G (p.Asn2945Lys) (rs35062203)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081182 SCV000262067 benign Alstrom syndrome 2020-12-03 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224531 SCV000281313 benign not provided 2015-12-21 criteria provided, single submitter clinical testing
GeneDx RCV000224531 SCV000530499 benign not provided 2018-05-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16720663, 25296579, 17594715)
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445518 SCV000536984 benign Monogenic diabetes 2019-02-22 criteria provided, single submitter research ACMG criteria: BP4 (9 predictors; Revel score 0.007), BS2 (18 homozygotes in gnomAD), BP1 (missense in gene with truncating mutations), BA1 (1.4% in European gnomAD; 1.1% in ESP); [InVitae, Partners & Childrens Mercy say benign but no longer using BP6]= benign
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000434271 SCV000711844 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Asn2944Lys in exon 10 of ALMS1: This variant is not expected to have clinical significance because it has been identified in 1.38% (921/66738) of European chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs35062203).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000224531 SCV001800093 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000434271 SCV001921989 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000434271 SCV001932946 benign not specified no assertion criteria provided clinical testing

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