ClinVar Miner

Submissions for variant NM_006295.3(VARS1):c.2840G>A (p.Arg947His)

gnomAD frequency: 0.00002  dbSNP: rs150882285
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Gleeson Lab, University of California San Diego - Department of Neuroscience RCV000754485 SCV000803741 likely pathogenic Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 2018-01-01 criteria provided, single submitter research
OMIM RCV000754485 SCV000920571 pathogenic Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 2019-08-20 no assertion criteria provided literature only

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