ClinVar Miner

Submissions for variant NM_014639.4(SKIC3):c.3875C>G (p.Thr1292Ser)

gnomAD frequency: 0.00220  dbSNP: rs138956788
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000873402 SCV001015387 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
New York Genome Center RCV001291647 SCV001480222 uncertain significance Trichohepatoenteric syndrome 1 2019-10-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938326 SCV004753959 likely benign SKIC3-related disorder 2023-02-28 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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