ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu) (rs45441106)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227911 SCV000283550 benign Fanconi anemia 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000120926 SCV000302476 likely benign not specified criteria provided, single submitter clinical testing
Counsyl RCV000674807 SCV000800206 likely benign Fanconi anemia, complementation group A 2018-05-24 criteria provided, single submitter clinical testing
ITMI RCV000120926 SCV000085094 not provided not specified 2013-09-19 no assertion provided reference population

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