ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.222G>A (p.Arg74=)

gnomAD frequency: 0.00001  dbSNP: rs1435290161
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000980703 SCV001128659 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2023-09-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264130 SCV002542864 likely benign Autoinflammatory syndrome 2018-01-01 criteria provided, single submitter clinical testing

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