ClinVar Miner

Submissions for variant NM_000146.4(FTL):c.319C>T (p.Leu107=)

gnomAD frequency: 0.00002  dbSNP: rs751923171
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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 RCV002104177 SCV002435742 likely benign Hereditary hyperferritinemia with congenital cataracts; Neuroferritinopathy 2025-01-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004752162 SCV005363039 likely benign FTL-related disorder 2024-03-07 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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