ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.1226C>T (p.Pro409Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003140523 SCV003807305 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2022-10-15 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, PP3 supporting

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