ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.536C>T (p.Ser179Leu) (rs587777777)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000144447 SCV000189514 pathogenic Neu-laxova syndrome 2 2014-09-04 no assertion criteria provided literature only
Dudley Research Group,Pacific Northwest Research Institute RCV001254512 SCV001430491 not provided not provided no assertion provided research

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