Submissions for variant NM_006623.3(PHGDH):c.-140A>G

gnomAD frequency: 0.61476  dbSNP: rs561931

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000267376	SCV000347870	benign	PHGDH deficiency	2018-01-12	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.
Genome-Nilou Lab	RCV001537645	SCV001754570	benign	Neu-Laxova syndrome 1	2021-07-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000267376	SCV001754571	benign	PHGDH deficiency	2021-07-08	criteria provided, single submitter	clinical testing
GeneDx	RCV001668631	SCV001889989	benign	not provided	2021-03-08	criteria provided, single submitter	clinical testing