ClinVar Miner

Submissions for variant NM_018026.4(PACS1):c.2373C>T (p.Asp791=)

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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 RCV003098898 SCV003481502 likely benign Schuurs-Hoeijmakers syndrome 2025-01-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003404083 SCV004136962 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing PACS1: BP4, BP7

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