ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.376G>C (p.Glu126Gln) (rs912983346)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518245 SCV000615438 likely pathogenic not provided 2016-12-08 criteria provided, single submitter clinical testing
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde RCV000515979 SCV000574458 pathogenic Hereditary spastic paraplegia 2017-03-07 criteria provided, single submitter research

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