ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.474T>C (p.Cys158=) (rs367648094)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000442133 SCV000534522 likely benign not specified 2016-12-06 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 RCV000465320 SCV000554300 likely benign Alstrom syndrome 2016-09-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000442133 SCV000967146 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Cys157Cys in exon 3 of ALMS1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.07% (6/8594) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs367648094).

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