ClinVar Miner

Submissions for variant NM_006623.4(PHGDH):c.1078+10G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003504368 SCV004343640 likely benign PHGDH deficiency 2023-02-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003939106 SCV004758194 likely benign PHGDH-related disorder 2023-09-15 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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