ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.987G>C (p.Ala329=)

dbSNP: rs750823506
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002220763 SCV002363451 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2022-03-18 criteria provided, single submitter clinical testing

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