ClinVar Miner

Submissions for variant NM_006623.4(PHGDH):c.1185G>C (p.Leu395=)

dbSNP: rs1652224641
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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 RCV001418530 SCV001620760 likely benign PHGDH deficiency 2021-10-01 criteria provided, single submitter clinical testing

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