ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1996A>G (p.Arg666Gly)

gnomAD frequency: 0.00006  dbSNP: rs78437454
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000529036 SCV000626359 likely benign Fanconi anemia 2025-01-21 criteria provided, single submitter clinical testing
GeneDx RCV003231525 SCV003929715 uncertain significance not provided 2024-10-15 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Identified in an individual with breast cancer (PMID: 26689913); This variant is associated with the following publications: (PMID: 26689913)
PreventionGenetics, part of Exact Sciences RCV004537898 SCV004735326 likely benign FANCM-related disorder 2022-07-08 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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