ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.1780C>T (p.Arg594Ter)

dbSNP: rs900140738
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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 RCV000766166 SCV000882500 pathogenic Premature ovarian insufficiency 2018-01-10 no assertion criteria provided research
OMIM RCV003159542 SCV003853264 pathogenic Premature ovarian failure 21 2023-04-05 no assertion criteria provided literature only

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