ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.517-4T>C

gnomAD frequency: 0.00009  dbSNP: rs571529866
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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 RCV001505831 SCV001710744 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2023-09-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264360 SCV002542465 likely benign Autoinflammatory syndrome 2021-06-01 criteria provided, single submitter clinical testing

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