ClinVar Miner

Submissions for variant NM_014639.4(SKIC3):c.2275C>T (p.Leu759Phe)

gnomAD frequency: 0.00143  dbSNP: rs145496449
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000909332 SCV001054131 likely benign not provided 2024-12-12 criteria provided, single submitter clinical testing
GeneDx RCV000909332 SCV001989588 uncertain significance not provided 2019-08-06 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985042 SCV001132980 uncertain significance Trichohepatoenteric syndrome 1 2019-08-25 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003932952 SCV004747960 likely benign SKIC3-related disorder 2019-07-08 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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