ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1329+175C>T

gnomAD frequency: 0.00401  dbSNP: rs112446681
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000120982 SCV000168411 benign not specified 2014-01-07 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315754 SCV004017607 benign Fanconi anemia complementation group C 2023-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003430675 SCV004160160 benign not provided 2023-06-01 criteria provided, single submitter clinical testing FANCC: BS1, BS2
ITMI RCV000120982 SCV000085150 not provided not specified 2013-09-19 no assertion provided reference population
Natera, Inc. RCV001831912 SCV002081157 likely benign Fanconi anemia 2017-05-10 no assertion criteria provided clinical testing

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