ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.640C>T (p.Arg214Cys)

gnomAD frequency: 0.00285  dbSNP: rs61757385
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000234540 SCV000288630 benign Fanconi anemia 2025-01-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000121040 SCV000310554 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000323780 SCV000484375 likely benign Amyotrophic Lateral Sclerosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000378873 SCV000484376 likely benign Inclusion Body Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001166142 SCV001328482 benign Fanconi anemia complementation group G 2017-04-28 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Genetic Services Laboratory, University of Chicago RCV000121040 SCV002072298 benign not specified 2021-03-05 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000234540 SCV002537552 likely benign Fanconi anemia 2021-07-08 criteria provided, single submitter curation
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001166142 SCV005878894 likely benign Fanconi anemia complementation group G 2024-02-05 criteria provided, single submitter clinical testing
ITMI RCV000121040 SCV000085208 not provided not specified 2013-09-19 no assertion provided reference population

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