ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.1071G>A (p.Pro357=)

gnomAD frequency: 0.00002  dbSNP: rs367643394
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001540788 SCV001758712 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003771661 SCV004637477 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2023-02-06 criteria provided, single submitter clinical testing

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