ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.693G>A (p.Leu231=)

gnomAD frequency: 0.00024  dbSNP: rs374055726
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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 RCV000910729 SCV001055616 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2023-10-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264085 SCV002542894 uncertain significance Autoinflammatory syndrome 2020-01-01 criteria provided, single submitter clinical testing

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