ClinVar Miner

Submissions for variant NM_001256071.3(RNF213):c.9844_9846del (p.Trp3282del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ RCV003330237 SCV004037261 likely benign Moyamoya disease 2 2021-05-29 criteria provided, single submitter clinical testing Variant not present in gnomAD. Inframe deletion of one weakly conserved amino acid. On internal investigation, the variant did not segregate with symptoms in one family.

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