ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.1147A>G (p.Thr383Ala) (rs28730849)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206034 SCV000261783 benign Alstrom syndrome 2017-12-26 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224192 SCV000281160 benign not provided 2016-01-11 criteria provided, single submitter clinical testing
GeneDx RCV000444233 SCV000532109 benign not specified 2016-10-06 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.
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445400 SCV000536962 benign Monogenic diabetes 2015-12-16 criteria provided, single submitter research ACMG Criteria: BS1 (1000G), BS2 (ExAC AFR), BP4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000444233 SCV000967032 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Thr382Ala in exon 5 of ALMS1: This variant is not expected to have clinical si gnificance because it has been identified in 7.19% (95/1322) of African chromoso mes by the 1000 Genomes Project (Phase 3; dbSNP rs28730849).

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