ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.9864A>G (p.Pro3288=) (rs114687298)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418717 SCV000532636 likely benign not specified 2017-06-27 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 RCV000231000 SCV000290111 likely benign Alstrom syndrome 2016-04-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000418717 SCV000967151 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Pro3286Pro in exon 12 of ALMS1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.05% (32/66722) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs114687298).

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