ClinVar Miner

Submissions for variant NM_181507.2(HPS5):c.2750_2751del (p.Glu917fs)

dbSNP: rs1131692151
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV000495038 SCV000579443 pathogenic Hermansky-Pudlak syndrome 5 2017-03-14 no assertion criteria provided clinical testing

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