Submissions for variant NM_000478.6(ALPL):c.330T>C (p.Ser110=)

gnomAD frequency: 0.92311  dbSNP: rs1780316

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178778	SCV000230932	benign	not specified	2018-06-05	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000178778	SCV001652979	benign	not specified	2020-06-11	criteria provided, single submitter	clinical testing	The p.Ser110Ser variant in ALPL is classified as benign because it is the major allele at this position and is present in 94.5% (266754/282304) of total chromosomes in gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001514855	SCV001722799	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001533722	SCV001750511	benign	Infantile hypophosphatasia	2021-07-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001533723	SCV001750512	benign	Childhood hypophosphatasia	2021-07-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001533724	SCV001750513	benign	Adult hypophosphatasia	2021-07-01	criteria provided, single submitter	clinical testing
JKU Lab, Dept of Paediatrics, Johannes Kepler University	RCV001832026	SCV004174855	benign	Hypophosphatasia	2022-03-04	criteria provided, single submitter	clinical testing	GnomAD frequency 94.49%. It is a Synonymous change. Further details on the ACMG criteria applied could be looked up in the ALPL gene variant database. https://alplmutationdatabase.jku.at/
Breakthrough Genomics, Breakthrough Genomics	RCV001514855	SCV005286152	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000178778	SCV001741269	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000178778	SCV001807813	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000178778	SCV001965929	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001832026	SCV002094051	benign	Hypophosphatasia	2019-11-16	no assertion criteria provided	clinical testing