ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.212+13G>A

gnomAD frequency: 0.00005  dbSNP: rs375295026
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002104340 SCV002436597 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2022-09-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706378 SCV005213266 likely benign not provided criteria provided, single submitter not provided

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