ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.457-18A>G

gnomAD frequency: 0.00036  dbSNP: rs377206543
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160500 SCV000211065 benign not specified 2014-06-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001826862 SCV002453896 likely benign Fanconi anemia 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478485 SCV002801682 likely benign Fanconi anemia complementation group C 2021-11-13 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV002478485 SCV004017617 benign Fanconi anemia complementation group C 2023-07-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826862 SCV002081268 likely benign Fanconi anemia 2018-04-25 no assertion criteria provided clinical testing

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