ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.826+4del

dbSNP: rs2040369776
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001256349 SCV005639513 likely pathogenic Fanconi anemia complementation group A 2024-06-07 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001256349 SCV001425779 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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