ClinVar Miner

Submissions for variant NM_006623.4(PHGDH):c.1413G>A (p.Gln471=)

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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 RCV003502445 SCV004312125 likely benign PHGDH deficiency 2023-08-03 criteria provided, single submitter clinical testing

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