ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.6508T>A (p.Trp2170Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV002509009 SCV002818357 not provided Juvenile myoclonic epilepsy; Intellectual disability no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 03-26-2020 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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