ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.418-20A>G

gnomAD frequency: 0.00088  dbSNP: rs545542379
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000237028 SCV000292671 benign not specified 2015-06-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001284946 SCV001471047 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2019-12-24 criteria provided, single submitter clinical testing
Invitae RCV001284946 SCV002322403 benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2024-01-16 criteria provided, single submitter clinical testing

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