ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.1528C>T (p.Gln510Ter)

dbSNP: rs1829056657
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001194964 SCV004238187 likely pathogenic Fanconi anemia complementation group G 2023-06-29 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001194964 SCV001364838 pathogenic Fanconi anemia complementation group G 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Johan de Winter.

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