ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.796G>A (p.Asp266Asn) (rs104895418)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000084064 SCV001039550 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2020-08-06 criteria provided, single submitter clinical testing
GeneDx RCV001545655 SCV001765031 likely benign not provided 2019-08-26 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 19584923, 23426477)
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084064 SCV000116187 not provided Pyogenic arthritis-pyoderma gangrenosum-acne syndrome no assertion provided not provided

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