ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.654G>A (p.Glu218=)

gnomAD frequency: 0.00002  dbSNP: rs754705988
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229297 SCV000283588 likely benign Fanconi anemia 2024-01-09 criteria provided, single submitter clinical testing
GeneDx RCV001697253 SCV000722905 likely benign not provided 2018-07-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV001025399 SCV001187580 likely benign Hereditary cancer-predisposing syndrome 2016-10-05 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.
PreventionGenetics, part of Exact Sciences RCV003955298 SCV004770330 likely benign FANCC-related disorder 2022-05-11 criteria provided, single submitter 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).
Natera, Inc. RCV000229297 SCV002081237 likely benign Fanconi anemia 2019-02-13 no assertion criteria provided clinical testing

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