ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.765G>A (p.Thr255=)

gnomAD frequency: 0.00004  dbSNP: rs368685017
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001710005 SCV001938855 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264382 SCV002542895 uncertain significance Autoinflammatory syndrome 2018-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003611555 SCV004521148 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2023-03-09 criteria provided, single submitter clinical testing

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