ClinVar Miner

Submissions for variant NM_018026.4(PACS1):c.1993+18C>T

gnomAD frequency: 0.00007  dbSNP: rs543655686
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001667759 SCV001887020 benign not provided 2020-05-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002538595 SCV003246480 benign Schuurs-Hoeijmakers syndrome 2025-02-03 criteria provided, single submitter clinical testing

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