ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.710-142_710-141dup

dbSNP: rs17232344
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001521740 SCV001731136 benign Fanconi anemia 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV001615142 SCV001839721 benign not provided 2019-03-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17924555)
Mendelics RCV002246236 SCV002519263 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001521740 SCV002535071 benign Fanconi anemia 2020-01-02 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003918804 SCV004728463 benign FANCA-related disorder 2022-06-02 criteria provided, single submitter 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).
Leiden Open Variation Database RCV001256221 SCV001425626 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Johan de Winter.

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