ClinVar Miner

Submissions for variant NM_006623.4(PHGDH):c.792+6T>G

gnomAD frequency: 0.01118  dbSNP: rs146953046
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518662 SCV000614448 benign not provided 2019-02-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001097406 SCV001253688 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.
Invitae RCV001097406 SCV001720306 benign PHGDH deficiency 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000518662 SCV001850812 likely benign not provided 2021-03-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 33087887)
CeGaT Center for Human Genetics Tuebingen RCV000518662 SCV002496908 benign not provided 2024-04-01 criteria provided, single submitter clinical testing PHGDH: BP4, BS1, BS2
Genome-Nilou Lab RCV003338628 SCV004049088 benign Neu-Laxova syndrome 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001097406 SCV004049089 benign PHGDH deficiency 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001097406 SCV002094689 likely benign PHGDH deficiency 2019-11-28 no assertion criteria provided clinical testing

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