ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del)

dbSNP: rs1567618907
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Total submissions: 4
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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 RCV000761271 SCV000891229 likely pathogenic Fanconi anemia complementation group A 2016-10-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000761271 SCV002779938 likely pathogenic Fanconi anemia complementation group A 2022-05-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV000761271 SCV004196117 pathogenic Fanconi anemia complementation group A 2023-05-08 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000761271 SCV001426076 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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