ClinVar Miner

Submissions for variant NM_006623.4(PHGDH):c.792+16C>T

dbSNP: rs2101199027
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001537647 SCV001754574 benign Neu-Laxova syndrome 1 2021-07-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001537648 SCV001754575 benign PHGDH deficiency 2021-07-08 criteria provided, single submitter clinical testing

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