ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3894A>G (p.Gln1298=) (rs112034360)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000435620 SCV000524245 benign not specified 2016-09-27 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.
Invitae RCV000456336 SCV000554299 benign Alstrom syndrome 2019-12-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000435620 SCV000711828 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Gln1297Gln in exon 8 of ALMS1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 7.82% (517/6614) of Finnish chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs112034360).
Integrated Genetics/Laboratory Corporation of America RCV000435620 SCV000864128 benign not specified 2013-11-21 criteria provided, single submitter clinical testing

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