ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.14678G>A (p.Arg4893Gln)

gnomAD frequency: 0.00006  dbSNP: rs151139631
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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 RCV002118189 SCV002436610 benign not provided 2025-01-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004750699 SCV005348636 likely benign FAT4-related disorder 2024-09-13 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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