ClinVar Miner

Submissions for variant NM_000421.5(KRT10):c.49GGA[9] (p.Gly24dup)

dbSNP: rs148510452
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001546059 SCV001765509 likely benign not provided 2019-11-05 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-frame duplication of a Glycine residue in the variable head domain of keratin 10
Fulgent Genetics, Fulgent Genetics RCV002495870 SCV002800575 likely benign Epidermolytic ichthyosis; Congenital reticular ichthyosiform erythroderma; Annular epidermolytic ichthyosis 2022-01-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908892 SCV004722605 likely benign KRT10-related disorder 2024-02-15 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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