ClinVar Miner

Submissions for variant NM_006623.4(PHGDH):c.129G>A (p.Ala43=)

gnomAD frequency: 0.00001  dbSNP: rs587623477
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001278816 SCV002392120 likely benign PHGDH deficiency 2023-08-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278816 SCV001465858 uncertain significance PHGDH deficiency 2020-08-28 no assertion criteria provided clinical testing

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