ClinVar Miner

Submissions for variant NM_173648.4(CCDC141):c.1979G>A (p.Arg660Gln)

gnomAD frequency: 0.00001  dbSNP: rs752970629
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Developmental Genetics, Institut Pasteur RCV001568334 SCV001786686 uncertain significance Disorder of sexual differentiation 2021-08-15 no assertion criteria provided research

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