ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1979T>C (p.Leu660Pro)

dbSNP: rs1567621042
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000761289 SCV000891261 pathogenic Fanconi anemia complementation group A 2018-10-04 criteria provided, single submitter clinical testing
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare RCV000761289 SCV005873742 pathogenic Fanconi anemia complementation group A 2021-05-05 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000761289 SCV001425941 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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