ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.516+3G>A

gnomAD frequency: 0.00002  dbSNP: rs764658426
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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 RCV001451551 SCV001655182 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2023-10-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264326 SCV002542880 uncertain significance Autoinflammatory syndrome 2020-03-01 criteria provided, single submitter clinical testing

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