ClinVar Miner

Submissions for variant NM_004171.4(SLC1A2):c.562-36T>C

gnomAD frequency: 0.22153  dbSNP: rs3895234
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001807617 SCV002055719 benign Developmental and epileptic encephalopathy, 41 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718984 SCV005316124 benign not provided criteria provided, single submitter not provided

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