Submissions for variant NM_000478.6(ALPL):c.876A>G (p.Pro292=)

gnomAD frequency: 0.18763  dbSNP: rs3200255

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000253870	SCV000304445	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000274166	SCV000354306	benign	Hypophosphatasia	2018-01-13	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	RCV000710518	SCV000602470	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000253870	SCV000702081	benign	not specified	2016-10-17	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000710518	SCV000840756	benign	not provided	2017-04-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000710518	SCV001725120	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000710518	SCV001745701	benign	not provided	2018-08-20	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001533619	SCV001750338	benign	Infantile hypophosphatasia	2021-07-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001533620	SCV001750339	benign	Childhood hypophosphatasia	2021-07-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001533621	SCV001750340	benign	Adult hypophosphatasia	2021-07-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000710518	SCV005286167	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000274166	SCV001459881	benign	Hypophosphatasia	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000253870	SCV001744303	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000253870	SCV001809080	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000253870	SCV001969927	benign	not specified		no assertion criteria provided	clinical testing