ClinVar Miner

Submissions for variant NM_006623.4(PHGDH):c.1575G>T (p.Val525=)

gnomAD frequency: 0.00004  dbSNP: rs587681898
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000912622 SCV001057733 likely benign PHGDH deficiency 2024-10-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711398 SCV005261556 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000912622 SCV001453153 likely benign PHGDH deficiency 2019-12-31 no assertion criteria provided clinical testing

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