ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.12175C>T (p.Leu4059=) (rs1052162)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444290 SCV000524257 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 RCV000444290 SCV000711851 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Leu4058Leu in exon 20 of ALMS1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 80.11% (1059/1322) of African chromosomes by the 1000 Genomes Project (Phase 3; dbSNP rs1052162).
Invitae RCV000860249 SCV001000231 benign Alstrom syndrome 2019-12-31 criteria provided, single submitter clinical testing

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