ClinVar Miner

Submissions for variant NM_181507.1(HPS5):c.3046G>A (p.Glu1016Lys) (rs17853184)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000763726 SCV000894610 uncertain significance Hermansky-Pudlak syndrome 5 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000324348 SCV000369604 uncertain significance Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000606575 SCV000711326 likely benign not specified 2018-07-03 criteria provided, single submitter clinical testing The p.Glu1016Lys variant in HPS5 is classified as likely benign because it has b een identified in 0.23 % (290/126656) of European chromosomes by the Genome Aggr egation Database (gnomAD, and computational pr ediction tools and conservation analysis suggest that the p.Glu1016Lys variant m ay not impact the protein. ACMG/AMP Criteria applied: BS1, BP4.

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