ClinVar Miner

Submissions for variant NR_023343.1:n.30G>A (rs374299350)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics RCV000023098 SCV000864075 likely pathogenic Osteodysplastic primordial dwarfism, type 1 2018-01-01 criteria provided, single submitter research The same individual also harbours another variant g.122288495C>T in the same gene along with this variant as compound heterozygote
OMIM RCV000023098 SCV000044389 pathogenic Osteodysplastic primordial dwarfism, type 1 2011-04-08 no assertion criteria provided literature only

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