ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.9861A>G (p.Pro3287=) (rs114687298)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231000 SCV000290111 likely benign Alstrom syndrome 2020-12-04 criteria provided, single submitter clinical testing
GeneDx RCV001697589 SCV000532636 likely benign not provided 2021-03-09 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).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000418717 SCV002015041 likely benign not specified 2021-10-23 criteria provided, single submitter clinical testing

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