ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.929del (p.Pro310fs)

dbSNP: rs587778337
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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 RCV003460852 SCV004196800 likely pathogenic Fanconi anemia complementation group E 2024-01-03 criteria provided, single submitter clinical testing
ITMI RCV000121009 SCV000085177 not provided not specified 2013-09-19 no assertion provided reference population

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