ClinVar Miner

Submissions for variant NM_001366521.1(ATP2B1):c.406+1G>A

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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 RCV003387661 SCV004099190 likely pathogenic Intellectual developmental disorder, autosomal dominant 66 2023-09-28 criteria provided, single submitter clinical testing PVS1, PM2

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