ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.884C>G (p.Pro295Arg) (rs148080212)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000886733 SCV001030257 likely benign not provided 2017-08-15 criteria provided, single submitter clinical testing
Invitae RCV001447883 SCV001650960 likely benign Neu-laxova syndrome 2 2020-11-23 criteria provided, single submitter clinical testing
Dudley Research Group,Pacific Northwest Research Institute RCV000886733 SCV001430558 not provided not provided no assertion provided research

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