ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.5172A>G (p.Gln1724=) (rs75434052)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206360 SCV000262083 benign Alstrom syndrome 2018-01-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000428900 SCV000966252 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Gln1722Gln 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 5.86% (573/9782) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs75434052).
GeneDx RCV000428900 SCV000529348 benign not specified 2016-10-11 no assertion criteria provided 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.

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