ClinVar Miner

Submissions for variant NM_018026.4(PACS1):c.1238C>T (p.Thr413Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002914706 SCV003264375 benign Schuurs-Hoeijmakers syndrome 2023-07-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002914706 SCV003816590 uncertain significance Schuurs-Hoeijmakers syndrome 2021-02-02 criteria provided, single submitter clinical testing

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