ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.159C>T (p.Tyr53=)

gnomAD frequency: 0.00004  dbSNP: rs563906441
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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 RCV000928758 SCV001074374 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2023-10-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705928 SCV005213265 likely benign not provided criteria provided, single submitter not provided

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