ClinVar Miner

Submissions for variant NM_017644.3(KLHL24):c.3G>A (p.Met1Ile)

dbSNP: rs886037957
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory of Dermatology, Peking University First Hospital RCV000258019 SCV000299381 pathogenic Epidermolysis bullosa simplex, Koebner type 2016-09-01 criteria provided, single submitter research
OMIM RCV000415529 SCV000493983 pathogenic Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss 2023-02-08 no assertion criteria provided literature only

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