ClinVar Miner

Submissions for variant NM_006623.4(PHGDH):c.1086C>T (p.Ser362=)

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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 RCV003502135 SCV004301207 likely benign PHGDH deficiency 2023-12-03 criteria provided, single submitter clinical testing

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