ClinVar Miner

Submissions for variant NM_001100915.3(KCTD19):c.215C>A (p.Thr72Asn)

dbSNP: rs869312866
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000210400 SCV000258442 likely pathogenic Cerebral visual impairment and intellectual disability 2015-09-09 criteria provided, single submitter research This study shows that diverse genetic causes underlie CVI.

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