ClinVar Miner

Submissions for variant NM_001365088.1(SLC12A6):c.21C>T (p.Thr7=)

gnomAD frequency: 0.00007  dbSNP: rs146902000
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000387268 SCV000390329 uncertain significance Agenesis of the corpus callosum with peripheral neuropathy 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000913832 SCV001058988 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000387268 SCV002055410 likely benign Agenesis of the corpus callosum with peripheral neuropathy 2021-07-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000387268 SCV001456701 uncertain significance Agenesis of the corpus callosum with peripheral neuropathy 2020-04-18 no assertion criteria provided clinical testing

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