ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3164G>T (p.Arg1055Leu)

dbSNP: rs1429943036
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672291 SCV000797387 uncertain significance Fanconi anemia complementation group A 2018-01-29 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000672291 SCV001425980 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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