ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.8017G>C (p.Asp2673His) (rs2017116)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431981 SCV000524322 benign not specified 2016-09-23 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 RCV000431981 SCV000711875 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Asp2672His in exon 10 of ALMS1: This variant is not expected to have clinical significance because it has been identified in 21.84% (1884/8626) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut; dbSNP rs2017116).
Invitae RCV000860050 SCV000999965 benign Alstrom syndrome 2020-12-05 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000860050 SCV001769061 benign Alstrom syndrome 2021-07-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000860050 SCV001453026 benign Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing

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