ClinVar Miner

Submissions for variant NM_015311.3(OBSL1):c.2222C>G (p.Ser741Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003495348 SCV004244551 likely pathogenic 3M syndrome 2 2023-12-12 criteria provided, single submitter clinical testing PVS1, PM2

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