ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.356_360del (p.Ser119fs)

dbSNP: rs1060499606
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092276 SCV001248697 pathogenic not provided 2018-03-01 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000477851 SCV001365289 pathogenic Fanconi anemia complementation group C 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Johan de Winter.
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477851 SCV000536881 likely pathogenic Fanconi anemia complementation group C 2016-03-16 no assertion criteria provided research

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