ClinVar Miner

Submissions for variant NM_181507.1(HPS5):c.3045G>A (p.Met1015Ile) (rs61755718)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625070 SCV000743670 likely benign Hermansky-Pudlak syndrome 5 2015-05-18 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376736 SCV000369605 uncertain significance Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000242192 SCV000316733 likely benign not specified criteria provided, single submitter clinical testing

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