ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.1023_1027delinsAGACCT (p.Arg342fs)

dbSNP: rs587777776
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000144446 SCV000189513 pathogenic Neu-Laxova syndrome 2 2014-09-04 no assertion criteria provided literature only
Dudley Research Group, Pacific Northwest Research Institute RCV001254416 SCV001430394 not provided not provided no assertion provided research

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