ClinVar Miner

Submissions for variant NM_025103.4(IFT74):c.1525_1527del (p.Ser509del)

dbSNP: rs372620127
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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 RCV002068802 SCV002323717 benign not provided 2024-12-31 criteria provided, single submitter clinical testing
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center RCV001252739 SCV001163882 uncertain significance Microcephaly no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV003962990 SCV004784075 likely benign IFT74-related disorder 2023-11-17 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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