ClinVar Miner

Submissions for variant NM_001135649.3(FOXI3):c.148G>C (p.Ala50Pro)

gnomAD frequency: 0.00409  dbSNP: rs550296238
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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 RCV001371957 SCV001568542 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001371957 SCV004155164 benign not provided 2022-04-01 criteria provided, single submitter clinical testing FOXI3: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001371957 SCV005259864 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003953693 SCV004775572 likely benign FOXI3-related disorder 2023-06-16 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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