ClinVar Miner

Submissions for variant NM_001365088.1(SLC12A6):c.3120C>G (p.Thr1040=)

dbSNP: rs571120129
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002537877 SCV003456260 likely benign not provided 2024-08-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280146 SCV001467302 uncertain significance Agenesis of the corpus callosum with peripheral neuropathy 2020-08-14 no assertion criteria provided clinical testing

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