ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.-421CCTG[6]

dbSNP: rs55909412
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000393343 SCV000393980 benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001683276 SCV001900022 benign not provided 2019-08-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262995 SCV002542454 likely benign Autoinflammatory syndrome 2017-01-24 criteria provided, single submitter clinical testing

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