ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.643-13C>A

gnomAD frequency: 0.00002  dbSNP: rs200459219
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236567 SCV000293134 benign not specified 2015-09-18 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001418360 SCV001620586 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2023-08-09 criteria provided, single submitter clinical testing

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