ClinVar Miner

Submissions for variant NM_006623.4(PHGDH):c.510+6A>G

gnomAD frequency: 0.00133  dbSNP: rs371736796
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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 RCV001083888 SCV001122621 likely benign PHGDH deficiency 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000974763 SCV001144932 benign not provided 2018-11-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003338887 SCV004049073 benign Neu-Laxova syndrome 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001083888 SCV004049074 benign PHGDH deficiency 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001083888 SCV001463181 likely benign PHGDH deficiency 2020-06-05 no assertion criteria provided clinical testing

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