ClinVar Miner

Submissions for variant NM_003140.3(SRY):c.227G>T (p.Arg76Leu)

dbSNP: rs1057519627
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital RCV000445559 SCV000494288 likely pathogenic 46,XY sex reversal 1 2017-01-26 criteria provided, single submitter clinical testing

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