ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.768G>T (p.Leu256=)

dbSNP: rs2152689079
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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 RCV002155044 SCV002331117 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2021-03-12 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264452 SCV002542896 uncertain significance Autoinflammatory syndrome 2018-02-02 criteria provided, single submitter clinical testing

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