ClinVar Miner

Submissions for variant NM_018026.4(PACS1):c.588G>A (p.Arg196=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003536191 SCV004251023 likely benign Schuurs-Hoeijmakers syndrome 2023-11-27 criteria provided, single submitter clinical testing

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