ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.123G>A (p.Glu41=)

gnomAD frequency: 0.00001  dbSNP: rs766141606
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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 RCV001002234 SCV001160109 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2018-07-10 criteria provided, single submitter clinical testing
Invitae RCV001002234 SCV001672763 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2023-09-19 criteria provided, single submitter clinical testing

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