ClinVar Miner

Submissions for variant NM_001005273.3(CHD3):c.3563C>T (p.Ala1188Val)

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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 RCV005233437 SCV005874078 uncertain significance not provided 2024-10-22 criteria provided, single submitter clinical testing PM2, PP2

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