ClinVar Miner

Submissions for variant NM_001393392.1(AKR1C2):c.158_159del (p.His53fs)

gnomAD frequency: 0.00031  dbSNP: rs782217424
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989391 SCV004808194 uncertain significance 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency 2024-03-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004634418 SCV005125837 uncertain significance not specified 2024-04-05 criteria provided, single submitter clinical testing Does not currently meet published gene-disease clinical validity criteria Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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