ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.43G>C (p.Ala15Pro) (rs774962204)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000390253 SCV000480844 uncertain significance Phosphoserine aminotransferase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center RCV001252716 SCV001163859 uncertain significance Microcephaly no assertion criteria provided research
Dudley Research Group,Pacific Northwest Research Institute RCV001254429 SCV001430407 not provided not provided no assertion provided research

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