ClinVar Miner

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

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427899 SCV000529345 likely benign not specified 2017-11-02 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.
Invitae RCV001084152 SCV000554289 benign Alstrom syndrome 2019-12-31 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,; 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, 3 homozygotes in gnomAD), BP1, BS1 (MAF 1.7% in gnomAD Africans)= benign

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