ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.355-4G>A

dbSNP: rs1596111331
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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 RCV000985013 SCV005740762 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2024-02-14 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985013 SCV001132944 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2019-08-25 no assertion criteria provided clinical testing

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