ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2222+1G>C (rs775388912)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670106 SCV000794922 likely pathogenic Fanconi anemia, complementation group A 2017-10-19 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000670106 SCV001426081 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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