ClinVar Miner

Submissions for variant NM_006623.4(PHGDH):c.643+17A>C

gnomAD frequency: 0.00012  dbSNP: rs772910115
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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 RCV002145906 SCV002459864 likely benign PHGDH deficiency 2024-11-11 criteria provided, single submitter clinical testing

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