ClinVar Miner

Submissions for variant NC_000002.12:g.231203677_231211238del

Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network,NIH RCV000788054 SCV000927070 uncertain significance JOUBERT SYNDROME 30 2019-01-07 criteria provided, single submitter clinical testing

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