ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.1316+19G>A

gnomAD frequency: 0.14669  dbSNP: rs6457823
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244196 SCV000313806 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001514685 SCV001722589 benign Fanconi anemia complementation group E 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001194812 SCV001906539 benign not provided 2019-01-10 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001514685 SCV004017666 benign Fanconi anemia complementation group E 2023-07-07 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001194812 SCV001364611 uncertain significance not provided 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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