ClinVar Miner

Submissions for variant NM_001171251.3(HROB):c.421del (p.Glu141fs)

gnomAD frequency: 0.00001  dbSNP: rs762836620
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Reproductive Development, Murdoch Childrens Research Institute RCV001839427 SCV001810169 likely pathogenic Premature ovarian insufficiency 2021-02-09 no assertion criteria provided research
OMIM RCV004595619 SCV005088539 pathogenic Ovarian dysgenesis 11 2024-07-23 no assertion criteria provided literature only

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