ClinVar Miner

Submissions for variant NM_001127713.1(ATL1):c.1200G>A (p.Lys400=) (rs144792471)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724714 SCV000225668 uncertain significance not provided 2015-04-02 criteria provided, single submitter clinical testing
GeneDx RCV000724714 SCV000720807 likely benign not provided 2020-07-29 criteria provided, single submitter clinical testing
Invitae RCV001081632 SCV001003801 benign Hereditary spastic paraplegia 3A 2020-08-03 criteria provided, single submitter clinical testing

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