ClinVar Miner

Submissions for variant NM_020631.5(PLEKHG5):c.1940T>C (p.Phe647Ser) (rs63750315)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Inherited Neuropathy Consortium RCV000790140 SCV000929531 uncertain significance Genetic motor neuron disease no assertion criteria provided literature only
OMIM RCV000001074 SCV000021224 pathogenic Distal spinal muscular atrophy, autosomal recessive 4 2007-07-01 no assertion criteria provided literature only
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation RCV000001074 SCV000090405 not provided Distal spinal muscular atrophy, autosomal recessive 4 no assertion provided not provided

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