ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.2737C>T (p.Gln913Ter) (rs1359408831)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332840 SCV001525269 likely pathogenic Fanconi anemia, complementation group I 2020-05-05 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
PerkinElmer Genomics RCV001332840 SCV002023038 pathogenic Fanconi anemia, complementation group I 2021-02-08 no assertion criteria provided clinical testing

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