ClinVar Miner

Submissions for variant NM_006623.4(PHGDH):c.1158G>T (p.Ala386=)

gnomAD frequency: 0.00191  dbSNP: rs144484007
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000973792 SCV001121569 benign PHGDH deficiency 2025-01-30 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001288266 SCV001475250 benign not specified 2019-11-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003338886 SCV004049119 benign Neu-Laxova syndrome 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000973792 SCV004049120 benign PHGDH deficiency 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000973792 SCV001461722 benign PHGDH deficiency 2020-09-16 no assertion criteria provided clinical testing

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