ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.2661del (p.Glu888fs)

dbSNP: rs762544228
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003313185 SCV004012611 likely pathogenic not provided 2023-01-06 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 17436244)
Baylor Genetics RCV001194924 SCV004196723 pathogenic Fanconi anemia complementation group D2 2023-09-27 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001194924 SCV001364789 pathogenic Fanconi anemia complementation group D2 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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