ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) (rs138417003)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674808 SCV000800208 likely benign Fanconi anemia, complementation group A 2018-05-24 criteria provided, single submitter clinical testing
ITMI RCV000120938 SCV000085106 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000228134 SCV000399826 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000228134 SCV000283562 benign Fanconi anemia 2017-12-20 criteria provided, single submitter clinical testing

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