ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2492TCT[1] (p.Phe832del)

dbSNP: rs1310756192
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671281 SCV000796241 uncertain significance Fanconi anemia complementation group A 2017-12-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001217109 SCV001388939 uncertain significance Fanconi anemia 2023-12-25 criteria provided, single submitter clinical testing This variant, c.2495_2497del, results in the deletion of 1 amino acid(s) of the FANCA protein (p.Phe832del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with Fanconi anemia (PMID: 10094191). ClinVar contains an entry for this variant (Variation ID: 555457). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV000671281 SCV002783256 uncertain significance Fanconi anemia complementation group A 2021-09-11 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000671281 SCV001425686 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.
Istanbul Faculty of Medicine, Istanbul University RCV000671281 SCV002524169 pathogenic Fanconi anemia complementation group A 2022-06-06 no assertion criteria provided clinical testing

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