ClinVar Miner

Submissions for variant NM_000421.5(KRT10):c.1654_1683dup (p.Gly556_Gly565dup)

dbSNP: rs776920005
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000601257 SCV000730177 likely benign not specified 2018-01-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000948451 SCV001094662 likely benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506484 SCV002810583 benign Epidermolytic ichthyosis; Congenital reticular ichthyosiform erythroderma; Annular epidermolytic ichthyosis 2021-08-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980188 SCV004795277 benign KRT10-related disorder 2020-05-05 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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