ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.558G>A (p.Glu186=)

dbSNP: rs879254120
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235693 SCV000293571 likely benign not specified 2015-12-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Center for Human Genetics Tuebingen RCV003401197 SCV004137428 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing PSTPIP1: PM2:Supporting, BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003765479 SCV004631013 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2023-07-10 criteria provided, single submitter clinical testing

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