ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.8481G>T (p.Arg2827Ser) (rs2056486)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423416 SCV000524252 benign not specified 2016-09-09 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 RCV000423416 SCV000711855 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Arg2826Ser in exon 10 of ALMS1: This variant is not expected to have clinical significance because it has been identified in 85.78% (1134/1322) of African chr omosomes by the 1000 Genomes Project (Phase 3; dbSNP rs2056486).
Invitae RCV000860247 SCV001000229 benign Alstrom syndrome 2019-12-31 criteria provided, single submitter clinical testing

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