ClinVar Miner

Submissions for variant NM_173086.5(KRT6C):c.417C>T (p.Thr139=)

gnomAD frequency: 0.29042  dbSNP: rs1053684
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001731081 SCV001981182 benign Palmoplantar keratoderma, nonepidermolytic, focal or diffuse 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707701 SCV005229522 benign not provided criteria provided, single submitter not provided

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