ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn) (rs11896293)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224264 SCV000281050 benign not provided 2015-06-04 criteria provided, single submitter clinical testing
GeneDx RCV000422754 SCV000524255 benign not specified 2016-10-11 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 RCV000445464 SCV000536992 benign Monogenic diabetes 2019-02-08 criteria provided, single submitter research ACMG criteria: BP4 (REVEL score 0.034 + 8 predictors), BA1 (7.4% in gnomAD African) , BS2(70 homozygotes in gnomAD), BP1 (missense when truncating causes disease)= benign
Invitae RCV001082984 SCV000554311 benign Alstrom syndrome 2019-12-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000422754 SCV000711835 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Ser3684Asn in exon 16 of ALMS1: This variant is not expected to have clinical significance because it has been identified in 7.58% (734/9688) of African chrom osomes by the Exome Aggregation Consortium (ExAC, ; dbSNP rs11896293).
Athena Diagnostics Inc RCV000224264 SCV001142995 benign not provided 2019-03-21 criteria provided, single submitter clinical testing

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