ClinVar Miner

Submissions for variant NM_006940.6(SOX5):c.1050G>C (p.Gln350His)

dbSNP: rs1566239985
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000784985 SCV000923532 uncertain significance Lamb-Shaffer syndrome 2019-01-01 criteria provided, single submitter clinical testing

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