ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1360-10C>G

gnomAD frequency: 0.00165  dbSNP: rs150836356
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000862982 SCV001003565 benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816952 SCV002065288 likely benign not specified 2019-06-26 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000862982 SCV002534912 benign Fanconi anemia 2020-10-23 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003975391 SCV004794077 likely benign FANCA-related condition 2019-10-11 criteria provided, single submitter 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).
Natera, Inc. RCV001274151 SCV001457955 benign Fanconi anemia complementation group A 2020-09-16 no assertion criteria provided clinical testing

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