ClinVar Miner

Submissions for variant NM_181507.2(HPS5):c.46G>C (p.Ala16Pro) (rs1590156657)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City	RCV000985015	SCV001132946	uncertain significance	Hermansky-Pudlak syndrome 5	2019-08-25	no assertion criteria provided	clinical testing

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