Submissions for variant NM_000478.6(ALPL):c.787T>C (p.Tyr263His)

gnomAD frequency: 0.17878  dbSNP: rs3200254

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000179760	SCV000232061	benign	not specified	2014-10-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000179760	SCV000304437	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000207155	SCV000354302	benign	Hypophosphatasia	2018-03-06	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001516773	SCV001158732	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001516773	SCV001725118	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001533731	SCV001750520	benign	Infantile hypophosphatasia	2021-07-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001533732	SCV001750521	benign	Childhood hypophosphatasia	2021-07-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001533733	SCV001750522	benign	Adult hypophosphatasia	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001516773	SCV001833705	benign	not provided	2018-08-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 32160374, 31600233, 19931660, 28881669, 9781036, 15824850, 18724009)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277424	SCV002564828	benign	Osteogenesis imperfecta	2022-07-09	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001516773	SCV005286156	benign	not provided		criteria provided, single submitter	not provided
GeneReviews	RCV000207155	SCV000262610	not provided	Hypophosphatasia		no assertion provided	literature only
Natera, Inc.	RCV000207155	SCV001459880	benign	Hypophosphatasia	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000179760	SCV001743551	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000179760	SCV001809156	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000179760	SCV001966883	benign	not specified		no assertion criteria provided	clinical testing