ClinVar Miner

Submissions for variant NM_032608.7(MYO18B):c.2879C>T (p.Ala960Val) (rs147134820)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000920724 SCV001066101 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV001007846 SCV001167544 uncertain significance Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism no assertion criteria provided research

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