ClinVar Miner

Submissions for variant NM_003664.4(AP3B1):c.2880C>T (p.Ala960=) (rs62001052)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000289539 SCV000458280 uncertain significance Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000612645 SCV000711279 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ala960Ala in exon 24 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 0.4% (32/8600) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs62001052).
Invitae RCV000859733 SCV000762182 benign not provided 2019-02-15 criteria provided, single submitter clinical testing
Johns Hopkins Genomics,Johns Hopkins University RCV000640588 SCV000992354 benign Hermansky Pudlak syndrome 2 2019-04-23 criteria provided, single submitter clinical testing

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