ClinVar Miner

Submissions for variant NM_006623.4(PHGDH):c.411+9C>A

dbSNP: rs187075075
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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 RCV002208561 SCV002493975 likely benign PHGDH deficiency 2021-01-29 criteria provided, single submitter clinical testing

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