ClinVar Miner

Submissions for variant NM_018026.4(PACS1):c.684C>T (p.Gly228=)

gnomAD frequency: 0.00002  dbSNP: rs548594376
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002539406 SCV001036951 benign Schuurs-Hoeijmakers syndrome 2025-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000893038 SCV001947366 benign not provided 2019-07-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818679 SCV002066524 benign not specified 2017-08-04 criteria provided, single submitter clinical testing

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