ClinVar Miner

Submissions for variant NM_003664.4(AP3B1):c.1317T>G (p.Thr439=) (rs75248449)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155461 SCV000205152 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Thr439Thr in exon 13 of AP3B1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.5% (47/8600) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs75248449).
Illumina Clinical Services Laboratory,Illumina RCV000349780 SCV000458304 uncertain significance Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000551368 SCV000639568 benign Hermansky Pudlak syndrome 2 2018-01-08 criteria provided, single submitter clinical testing

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