ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.1545C>T (p.Ala515=)

gnomAD frequency: 0.00028  dbSNP: rs201422773
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233650 SCV000288624 likely benign Fanconi anemia 2024-01-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001168310 SCV001330890 uncertain significance Fanconi anemia complementation group G 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Sema4, Sema4 RCV000233650 SCV002537530 likely benign Fanconi anemia 2020-12-16 criteria provided, single submitter curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001168310 SCV004017690 likely benign Fanconi anemia complementation group G 2023-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003430788 SCV004157695 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing FANCG: BP4, BP7
Natera, Inc. RCV001168310 SCV001452296 likely benign Fanconi anemia complementation group G 2020-09-16 no assertion criteria provided clinical testing

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