ClinVar Miner

Submissions for variant NM_018026.4(PACS1):c.1812C>T (p.Ser604=)

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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 RCV002654734 SCV003521537 likely benign Schuurs-Hoeijmakers syndrome 2023-10-15 criteria provided, single submitter clinical testing

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