ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.30G>A (p.Gln10=)

gnomAD frequency: 0.00013  dbSNP: rs145745979
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV005235381 SCV005880744 benign Premature ovarian failure 15 2025-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004975635 SCV005580784 likely benign Inborn genetic diseases 2024-11-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001788277 SCV004218758 benign not provided 2022-04-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001788277 SCV004134042 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing FANCM: BP4, BP7
Sema4, Sema4 RCV002255432 SCV002527345 likely benign Hereditary cancer-predisposing syndrome 2021-07-12 criteria provided, single submitter curation
GeneDx RCV001788277 SCV002030872 uncertain significance not provided 2024-09-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis indicates that this variant does not alter splicing
Labcorp Genetics (formerly Invitae), Labcorp RCV000545488 SCV000626366 benign Fanconi anemia 2024-12-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004537900 SCV004740837 likely benign FANCM-related disorder 2019-05-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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