ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3627-1G>A

dbSNP: rs2062172440
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001256408 SCV004196555 pathogenic Fanconi anemia complementation group A 2023-04-11 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001256408 SCV001425854 uncertain significance 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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