ClinVar Miner

Submissions for variant NM_001367873.1(SOX6):c.2183+7A>G

gnomAD frequency: 0.01235  dbSNP: rs146661971
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001550546 SCV001770885 likely benign not provided 2020-06-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001550546 SCV002436628 benign not provided 2024-01-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001550546 SCV005221349 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003921208 SCV004736068 benign SOX6-related disorder 2019-02-25 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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