ClinVar Miner

Submissions for variant NM_014467.3(SRPX2):c.117A>C (p.Glu39Asp)

dbSNP: rs762469858
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001206970 SCV001378305 uncertain significance Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked 2021-08-24 criteria provided, single submitter clinical testing

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