ClinVar Miner

Submissions for variant NM_018026.4(PACS1):c.1803C>T (p.Ala601=)

gnomAD frequency: 0.00001  dbSNP: rs371400214
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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 RCV000195169 SCV000248417 uncertain significance not specified 2015-01-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003650445 SCV004464335 likely benign Schuurs-Hoeijmakers syndrome 2023-11-13 criteria provided, single submitter clinical testing

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