ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) (rs753700179)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672199 SCV000797280 likely pathogenic Fanconi anemia, complementation group A 2018-01-23 criteria provided, single submitter clinical testing
OMIM RCV000672199 SCV000886139 pathogenic Fanconi anemia, complementation group A 2019-02-14 no assertion criteria provided literature only

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