ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.6755A>G (p.Asp2252Gly) (rs28730855)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079939 SCV000290102 benign Alstrom syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000420927 SCV000528961 likely benign not specified 2018-01-17 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 RCV000445515 SCV000536981 benign Monogenic diabetes 2018-09-07 criteria provided, single submitter research ACMG criteria: BP4 (REVEL 0.018 + 8 predictors), BP1, BS2 (5 homozygotes in gnomAD), BA1 (1.7% MAF in gnomAD)=Benign
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514944 SCV000609745 likely benign not provided 2017-05-08 criteria provided, single submitter clinical testing

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