ClinVar Miner

Submissions for variant NM_003664.4(AP3B1):c.1683C>T (p.Leu561=) (rs17192146)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000280057 SCV000458300 likely benign Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155460 SCV000205151 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Leu561Leu in exon 16 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 6.8% (587/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs17192146).
PreventionGenetics RCV000155460 SCV000309767 benign not specified criteria provided, single submitter clinical testing

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