ClinVar Miner

Submissions for variant NM_018026.4(PACS1):c.2412C>T (p.Ser804=)

gnomAD frequency: 0.00008  dbSNP: rs199759003
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000931715 SCV001077386 likely benign Schuurs-Hoeijmakers syndrome 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001731980 SCV001982976 likely benign not provided 2020-11-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818902 SCV002071214 likely benign not specified 2019-09-17 criteria provided, single submitter clinical testing

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