ClinVar Miner

Submissions for variant NM_173086.5(KRT6C):c.181C>T (p.Leu61=)

dbSNP: rs201833096
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001731084 SCV001981185 benign Palmoplantar keratoderma, nonepidermolytic, focal or diffuse 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709132 SCV005229526 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003976129 SCV004788392 benign KRT6C-related disorder 2024-01-03 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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