ClinVar Miner

Submissions for variant NM_006623.4(PHGDH):c.1545G>T (p.Leu515=)

dbSNP: rs1265382006
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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 RCV001495045 SCV001699714 likely benign PHGDH deficiency 2021-07-20 criteria provided, single submitter clinical testing

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