ClinVar Miner

Submissions for variant NM_004577.4(PSPH):c.390A>G (p.Val130=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003628044 SCV004424384 likely benign Deficiency of phosphoserine phosphatase 2023-11-27 criteria provided, single submitter clinical testing

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