ClinVar Miner

Submissions for variant NM_018026.4(PACS1):c.2291C>G (p.Ala764Gly)

gnomAD frequency: 0.00003  dbSNP: rs774147667
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001590904 SCV001827064 likely benign not provided 2021-05-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002579498 SCV003259440 likely benign Schuurs-Hoeijmakers syndrome 2024-12-02 criteria provided, single submitter clinical testing

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