ClinVar Miner

Submissions for variant NM_006121.4(KRT1):c.564C>G (p.Asn188Lys)

dbSNP: rs59429455
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
KK Women’s and Children’s Hospital RCV001293646 SCV001482268 likely pathogenic Annular epidermolytic ichthyosis 2021-02-28 criteria provided, single submitter clinical testing Inherited from the mother who is a mosaic carrier and had systematized epidermolytic nevi with extensive, linear and Blaschkoid verrucous plaques and hyperkeratotic lesions of the trunk and limbs.

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