ClinVar Miner

Submissions for variant NM_021008.4(DEAF1):c.664G>A (p.Gly222Ser)

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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 RCV002291469 SCV002583788 likely pathogenic Intellectual disability, autosomal dominant 24 2022-07-27 criteria provided, single submitter clinical testing PS2, PM1, PM2, PP3

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