ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.20C>T (p.Ser7Phe)

gnomAD frequency: 0.00138  dbSNP: rs35984312
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227360 SCV000288625 benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000121032 SCV000594708 benign not specified 2018-09-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001166630 SCV001329025 uncertain significance Fanconi anemia complementation group G 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab RCV001166630 SCV001653350 likely benign Fanconi anemia complementation group G 2021-05-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002262715 SCV002545678 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing FANCG: BP4, BS2
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001166630 SCV004017688 benign Fanconi anemia complementation group G 2023-07-07 criteria provided, single submitter clinical testing
ITMI RCV000121032 SCV000085200 not provided not specified 2013-09-19 no assertion provided reference population

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