ClinVar Miner

Submissions for variant NM_006623.4(PHGDH):c.111C>T (p.Ser37=)

gnomAD frequency: 0.00001  dbSNP: rs1270606502
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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 RCV002168830 SCV002475492 likely benign PHGDH deficiency 2024-06-03 criteria provided, single submitter clinical testing

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