ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.709A>G (p.Ile237Val)

dbSNP: rs2059190094
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333789 SCV001526469 uncertain significance Spinocerebellar ataxia type 6 2018-10-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001527651 SCV001738764 uncertain significance Global developmental delay 2020-01-01 no assertion criteria provided clinical testing

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