Submissions for variant NM_000478.6(ALPL):c.1119C>T (p.Thr373=)

gnomAD frequency: 0.00852  dbSNP: rs112335417

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000344290	SCV000354310	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.
Athena Diagnostics	RCV000710509	SCV000840746	benign	not provided	2018-03-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000710509	SCV001121018	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000710509	SCV001471950	benign	not provided	2023-10-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000710509	SCV001756073	likely benign	not provided	2020-05-26	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278336	SCV002565038	likely benign	Osteogenesis imperfecta	2021-01-08	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000710509	SCV005258965	likely benign	not provided		criteria provided, single submitter	not provided