ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.6467A>G (p.Asp2156Gly) (rs58093963)

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Total submissions: 4
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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 RCV000224895 SCV000281294 likely benign not provided 2016-02-10 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001079332 SCV000290096 benign Alstrom syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000419874 SCV000534468 likely benign not specified 2018-01-19 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 RCV000445367 SCV000536979 benign Monogenic diabetes 2018-05-18 criteria provided, single submitter research ACMG criteria: BP4 (7 predictors), REVEL of 0.02, BS1 (1.93% in Ashkenazi Jewish and 1.33% in Africans), BS2 (5 homozygotes in African and European ExAC), BP1 (missense in gene with truncating cause disease), NOTE: likely in LD with rs75145370= benign

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