ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.677C>T (p.Ser226Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332783 SCV001525197 uncertain significance Phosphoserine aminotransferase deficiency 2019-09-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Dudley Research Group,Pacific Northwest Research Institute RCV001254514 SCV001430493 not provided not provided no assertion provided research

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