ClinVar Miner

Submissions for variant NM_006623.4(PHGDH):c.418G>A (p.Gly140Arg) (rs587777770)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000128433 SCV000172114 pathogenic Neu-Laxova syndrome 1 2014-06-05 no assertion criteria provided literature only
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000171157 SCV000221353 likely pathogenic not provided no assertion criteria provided research

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