ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.3196T>C (p.Ser1066Pro) (rs28730852)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000467728 SCV000529345 benign not provided 2018-06-24 criteria provided, single submitter clinical testing
Invitae RCV001084152 SCV000554289 benign Alstrom syndrome 2020-12-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000427899 SCV000967035 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Ser1064Pro in exon 8 of ALMS1: This variant is not expected to have clinical s ignificance because it has been identified in 1.58% (155/9794) of African chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs28730852).
Athena Diagnostics Inc RCV000467728 SCV001143000 benign not provided 2018-09-14 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV001172514 SCV001335567 benign Monogenic diabetes 2018-05-18 criteria provided, single submitter research ACMG criteria: BP4 (9 predictors, Revel score 0.018), BS2 (35 cases and 38 controls in type2diabetesgenetics.org, 3 homozygotes in gnomAD), BP1, BS1 (MAF 1.7% in gnomAD Africans)= benign
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000467728 SCV001797355 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000427899 SCV001921982 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000427899 SCV001932942 benign not specified no assertion criteria provided clinical testing

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