ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.623C>T (p.Ser208Leu) (rs144420697)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664733 SCV000788740 uncertain significance Fanconi anemia, complementation group A 2016-12-28 criteria provided, single submitter clinical testing
ITMI RCV000120962 SCV000085130 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000461615 SCV000558870 benign Fanconi anemia 2017-06-16 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120962 SCV000302506 benign not specified criteria provided, single submitter clinical testing

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