ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.527C>T (p.Thr176Ile)

gnomAD frequency: 0.00371  dbSNP: rs77374493
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000338024 SCV000558917 benign Fanconi anemia 2024-01-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000503452 SCV000594742 benign not specified 2019-08-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV001293001 SCV001481727 uncertain significance Spermatogenic failure 28 2020-12-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001706479 SCV001823706 likely benign not provided 2021-06-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000503452 SCV002047229 benign not specified 2021-06-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001706479 SCV004134044 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing FANCM: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV004537775 SCV004728175 benign FANCM-related disorder 2019-05-08 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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