ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.537G>A (p.Gln179=)

gnomAD frequency: 0.00003  dbSNP: rs927470089
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264497 SCV002542881 uncertain significance Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003611572 SCV004452664 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2023-12-06 criteria provided, single submitter clinical testing

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