ClinVar Miner

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

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081182 SCV000262067 benign Alstrom syndrome 2019-12-31 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 RCV000434271 SCV000530499 likely benign not specified 2017-10-19 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 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).

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