ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.1134G>A (p.Leu378=)

gnomAD frequency: 0.00082  dbSNP: rs529402949
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001083652 SCV000764083 benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2024-01-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756573 SCV000884419 benign not provided 2017-12-01 criteria provided, single submitter clinical testing
GeneDx RCV000756573 SCV001890601 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263879 SCV002542848 likely benign Autoinflammatory syndrome 2021-04-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000756573 SCV004137434 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing PSTPIP1: BP4

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