ClinVar Miner

Submissions for variant NM_018026.4(PACS1):c.1737G>A (p.Val579=)

gnomAD frequency: 0.00002  dbSNP: rs773764695
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501492 SCV000596188 likely benign not specified 2016-08-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002527274 SCV001059819 likely benign Schuurs-Hoeijmakers syndrome 2024-06-04 criteria provided, single submitter clinical testing

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