ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp) (rs45608038)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206180 SCV000261981 benign Alstrom syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000431594 SCV000528962 benign not specified 2017-11-13 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000431594 SCV000711806 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Asn1786Asp in exon 8 of ALMS1: This variant is not expected to have clinical s ignificance because it has been identified in 3.54% (234/6614) of Finnish chromo somes by the Exome Aggregation Consortium (ExAC,; dbSNP rs45608038).
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV001172522 SCV001335575 benign Monogenic diabetes 2018-10-26 criteria provided, single submitter research ACMG criteria: BP4 (REVEL =0.006 + 9 predictors), BA1 (1.5% MAF in gnomAD, 3.5 % in gnomAD European Finnish population), BS2 (60 homozygotes in gnomAD)= benign

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