ClinVar Miner

Submissions for variant NM_001365088.1(SLC12A6):c.528A>G (p.Lys176=)

gnomAD frequency: 0.00063  dbSNP: rs150922818
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000611225 SCV000729993 likely benign not specified 2018-03-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000872128 SCV001013899 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807305 SCV002055437 benign Agenesis of the corpus callosum with peripheral neuropathy 2021-07-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965288 SCV004784680 likely benign SLC12A6-related condition 2022-05-02 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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