ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.755A>G (p.Asp252Gly)

gnomAD frequency: 0.01851  dbSNP: rs17225943
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000120966 SCV000302508 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094266 SCV000399877 likely benign Fanconi anemia complementation group A 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000268674 SCV000558893 benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001705890 SCV001860766 benign not provided 2019-07-25 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000120966 SCV002046819 benign not specified 2021-03-30 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001094266 SCV004017570 benign Fanconi anemia complementation group A 2023-07-07 criteria provided, single submitter clinical testing
ITMI RCV000120966 SCV000085134 not provided not specified 2013-09-19 no assertion provided reference population
Natera, Inc. RCV001094266 SCV001459004 benign Fanconi anemia complementation group A 2020-09-16 no assertion criteria provided clinical testing

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