ClinVar Miner

Submissions for variant NM_198880.3(QRICH1):c.625C>T (p.Gln209Ter)

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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 RCV004699107 SCV005200996 likely pathogenic Ververi-Brady syndrome 2024-05-06 criteria provided, single submitter clinical testing PVS1, PM2

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