ClinVar Miner

Submissions for variant NM_018026.4(PACS1):c.2294-7_2294-6del

gnomAD frequency: 0.00029  dbSNP: rs534796219
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001694900 SCV001910914 benign not provided 2019-06-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821953 SCV002068697 likely benign not specified 2019-03-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073234 SCV002401237 benign Schuurs-Hoeijmakers syndrome 2024-01-19 criteria provided, single submitter clinical testing

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