ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.1902A>G (p.Gln634=) (rs116033693)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439779 SCV000533531 benign not specified 2016-10-28 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 RCV000474519 SCV000554301 benign Alstrom syndrome 2017-12-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000439779 SCV000711819 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Gln632Gln in exon 8 of ALMS1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 4.44% (435/9796) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org; dbSNP rs116033693).
Athena Diagnostics Inc RCV000710529 SCV000840769 benign not provided 2018-05-24 criteria provided, single submitter clinical testing

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