ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.929+18G>A

gnomAD frequency: 0.00001  dbSNP: rs773172907
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001289 SCV001158468 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2019-12-14 criteria provided, single submitter clinical testing
Invitae RCV001001289 SCV004554049 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2024-01-04 criteria provided, single submitter clinical testing

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