ClinVar Miner

Submissions for variant NM_133496.5(SLC30A7):c.490_491delinsAG (p.His164Ser) (rs1057519442)

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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 RCV000416450 SCV000494168 pathogenic Joubert syndrome 1 no assertion criteria provided research This variant was identified in an individual with a clinical diagnosis of Joubert syndrome.

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