ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.2442T>C (p.Thr814=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003433420 SCV004146906 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing FANCD2: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003523176 SCV004286000 likely benign Fanconi anemia 2023-11-10 criteria provided, single submitter clinical testing

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