ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.1120-20G>A

gnomAD frequency: 0.00010  dbSNP: rs200256020
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001690692 SCV001909822 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073236 SCV002411406 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2024-01-20 criteria provided, single submitter clinical testing

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