ClinVar Miner

Submissions for variant NM_021044.4(DHH):c.1027T>C (p.Cys343Arg)

dbSNP: rs867798393
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 RCV000256189 SCV000299290 likely pathogenic 46,XY sex reversal 7 2016-09-08 criteria provided, single submitter clinical testing

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