ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1475A>G (p.His492Arg)

dbSNP: rs925457555
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669501 SCV000794258 uncertain significance Fanconi anemia complementation group A 2017-09-20 criteria provided, single submitter clinical testing
Baylor Genetics RCV000669501 SCV004196607 likely pathogenic Fanconi anemia complementation group A 2022-11-16 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000669501 SCV001426056 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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