ClinVar Miner

Submissions for variant NM_001365088.1(SLC12A6):c.2042+32C>A

gnomAD frequency: 0.02352  dbSNP: rs79436830
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001542900 SCV001761299 benign Agenesis of the corpus callosum with peripheral neuropathy 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001711410 SCV001942864 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711410 SCV005294167 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000147481 SCV000194917 likely benign not specified no assertion criteria provided clinical testing

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