ClinVar Miner

Submissions for variant NM_006623.4(PHGDH):c.21G>C (p.Arg7=)

gnomAD frequency: 0.00001  dbSNP: rs1650717107
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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 RCV002083677 SCV002375742 likely benign PHGDH deficiency 2021-08-17 criteria provided, single submitter clinical testing

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