ClinVar Miner

Submissions for variant NM_145068.4(TRPV3):c.224+27T>C

gnomAD frequency: 0.31129  dbSNP: rs9911213
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001689482 SCV001915166 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838806 SCV002098867 benign Isolated focal non-epidermolytic palmoplantar keratoderma 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838805 SCV002098868 benign Olmsted syndrome 1 2021-09-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001689482 SCV005252171 benign not provided criteria provided, single submitter not provided

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