ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.5T>C (p.Met2Thr)

gnomAD frequency: 0.00009  dbSNP: rs541085532
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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 RCV000897721 SCV001041882 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2023-12-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264067 SCV002542888 uncertain significance Autoinflammatory syndrome 2021-03-17 criteria provided, single submitter clinical testing

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