ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.1158G>A (p.Leu386=)

gnomAD frequency: 0.00003  dbSNP: rs752462668
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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 RCV000914616 SCV001059799 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2023-06-25 criteria provided, single submitter clinical testing
GeneDx RCV001712827 SCV001938886 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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