Submissions for variant NM_033419.5(PGAP3):c.850C>T (p.His284Tyr)

dbSNP: rs759541820

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Centogene AG - the Rare Disease Company	RCV000985140	SCV001426548	likely pathogenic	Hyperphosphatasia with intellectual disability syndrome 4		criteria provided, single submitter	clinical testing
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	RCV000985140	SCV001438826	pathogenic	Hyperphosphatasia with intellectual disability syndrome 4		criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000985140	SCV001521056	pathogenic	Hyperphosphatasia with intellectual disability syndrome 4	2020-05-05	criteria provided, single submitter	clinical testing	This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity	RCV000985140	SCV003822830	pathogenic	Hyperphosphatasia with intellectual disability syndrome 4	2022-04-07	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV000985140	SCV004804684	pathogenic	Hyperphosphatasia with intellectual disability syndrome 4	2024-03-17	criteria provided, single submitter	research
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	RCV000985140	SCV001133129	likely pathogenic	Hyperphosphatasia with intellectual disability syndrome 4	2019-09-26	no assertion criteria provided	clinical testing
OMIM	RCV000985140	SCV001244224	pathogenic	Hyperphosphatasia with intellectual disability syndrome 4	2022-11-07	no assertion criteria provided	literature only
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	RCV000985140	SCV003927909	pathogenic	Hyperphosphatasia with intellectual disability syndrome 4	2023-04-01	no assertion criteria provided	clinical testing