Submissions for variant NM_000478.6(ALPL):c.455G>A (p.Arg152His)

gnomAD frequency: 0.00814  dbSNP: rs149344982

Total submissions: 20

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178779	SCV000230933	benign	not specified	2015-03-12	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224237	SCV000280927	benign	not provided	2014-12-09	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000178779	SCV000304435	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000207050	SCV000354298	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000178779	SCV000538279	benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency, gene and variant associated with hypophosphatasia
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000224237	SCV000602471	benign	not provided	2023-10-26	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000178779	SCV000612317	benign	not specified	2017-07-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000224237	SCV001733508	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001533725	SCV001750514	benign	Infantile hypophosphatasia	2021-07-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001533726	SCV001750515	benign	Childhood hypophosphatasia	2021-07-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001533727	SCV001750516	benign	Adult hypophosphatasia	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000224237	SCV001832756	benign	not provided	2018-10-19	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 32160374, 31793067, 28492530, 27884173, 21228398, 11438998, 22995991, 21956185, 25023282)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277412	SCV002564772	benign	Osteogenesis imperfecta	2021-12-18	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002492784	SCV002803019	benign	Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia	2021-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000224237	SCV002821009	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	ALPL: PM5, BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000224237	SCV005258887	likely benign	not provided		criteria provided, single submitter	not provided
GeneReviews	RCV000207050	SCV000262609	not provided	Hypophosphatasia		no assertion provided	literature only
Natera, Inc.	RCV000207050	SCV001459876	benign	Hypophosphatasia	2020-09-16	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000224237	SCV001798471	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000178779	SCV001808212	benign	not specified		no assertion criteria provided	clinical testing