ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.2751A>G (p.Leu917=)

gnomAD frequency: 0.00002  dbSNP: rs766286504
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001412996 SCV001615098 likely benign Fanconi anemia 2024-09-08 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001412996 SCV002529501 likely benign Fanconi anemia 2020-10-08 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002499883 SCV002813102 likely benign Fanconi anemia complementation group D2 2022-04-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883632 SCV004699021 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing FANCD2: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003908601 SCV004719008 likely benign FANCD2-related disorder 2019-08-06 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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