ClinVar Miner

Submissions for variant NM_006940.6(SOX5):c.1712G>A (p.Arg571Gln)

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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 RCV003314168 SCV004013313 pathogenic Lamb-Shaffer syndrome 2023-06-20 criteria provided, single submitter clinical testing PS2, PM1, PM5, PP2, PP3

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