ClinVar Miner

Submissions for variant NM_014639.4(SKIC3):c.2437-4del

dbSNP: rs772531470
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002125042 SCV002408070 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003978739 SCV004792929 likely benign SKIC3-related disorder 2019-03-20 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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