ClinVar Miner

Submissions for variant NM_017644.3(KLHL24):c.2T>C (p.Met1Thr) (rs1057515580)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lab of Molecular Dermatology,University Medical Center Freiburg RCV000408918 SCV000328619 pathogenic Epidermolysis bullosa simplex, Koebner type 2016-08-01 criteria provided, single submitter research This variant causes skin fragility as demonstrated by the correlation between genotype and phenotype in the family and functional studies.
OMIM RCV000415575 SCV000493984 pathogenic Epidermolysis bullosa simplex, generalized, with scarring and hair loss 2017-01-12 no assertion criteria provided literature only

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