ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.739dup (p.Met247fs) (rs1573518300)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Reproductive Medicine,Shandong Provincial Hospital Affiliated to Shandong University RCV001000102 SCV001156523 likely pathogenic Fanconi anemia, complementation group L 2019-05-15 criteria provided, single submitter research Causative for POI by disturbance of DNA damage repair
Leiden Open Variation Database RCV001195066 SCV001365351 pathogenic not provided 2019-12-09 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Yajuan Yang. Comment: Variant observed de novo.

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