ClinVar Miner

Submissions for variant NM_022081.5(HPS4):c.558G>A (p.Ser186=) (rs13054747)

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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 RCV000150823 SCV000198358 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ser186Ser in exon 7 of HPS4: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 4.3% (367/8600) of Eu ropean American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs13054747).
PreventionGenetics,PreventionGenetics RCV000150823 SCV000313941 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000276415 SCV000437670 likely benign Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing

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