ClinVar Miner

Submissions for variant NM_006623.4(PHGDH):c.375G>A (p.Thr125=)

gnomAD frequency: 0.00006  dbSNP: rs754365384
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001441043 SCV001643960 likely benign PHGDH deficiency 2024-05-15 criteria provided, single submitter clinical testing

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