ClinVar Miner

Submissions for variant NM_006295.3(VARS1):c.3173G>A (p.Arg1058Gln) (rs769369302)

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Total submissions: 2
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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 RCV000454297 SCV000537911 likely pathogenic Abnormality of brain morphology criteria provided, single submitter research There is one more families with similar phenotype
OMIM RCV000516160 SCV000612154 pathogenic NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY 2019-08-20 no assertion criteria provided literature only

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