ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.4994T>C (p.Met1665Thr)

gnomAD frequency: 0.00003  dbSNP: rs376796307
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Reproductive Development, Murdoch Childrens Research Institute RCV000766154 SCV000882488 uncertain significance Premature ovarian insufficiency 2018-01-10 no assertion criteria provided research

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