ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.355-17C>T

gnomAD frequency: 0.00003  dbSNP: rs886038536
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249828 SCV000309900 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002518627 SCV003475812 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2022-12-03 criteria provided, single submitter clinical testing

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