ClinVar Miner

Submissions for variant NM_138773.4(SLC25A46):c.385-852_385-739del

dbSNP: rs1580858058
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000791292 SCV000930569 likely pathogenic SLC25A46-associated optic atrophy spectrum disorder 2019-03-05 criteria provided, single submitter clinical testing

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