ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.838+45C>G

dbSNP: rs116895455
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001287482 SCV001474175 benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2023-11-03 criteria provided, single submitter clinical testing
GeneDx RCV001692370 SCV001915695 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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