ClinVar Miner

Submissions for variant NM_014967.5(FAN1):c.1110C>T (p.Thr370=)

gnomAD frequency: 0.01126  dbSNP: rs114136100
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001545324 SCV001764639 likely benign not provided 2021-04-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001545324 SCV003243888 benign not provided 2025-01-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001545324 SCV005213846 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003921203 SCV004736146 benign FAN1-related disorder 2020-02-26 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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