ClinVar Miner

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

dbSNP: 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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