ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3348+18A>G (rs1800347)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000248216 SCV000302489 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000248216 SCV000603557 benign not specified 2017-02-17 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513957 SCV000610654 likely benign not provided 2017-10-03 criteria provided, single submitter clinical testing
Invitae RCV001521504 SCV001730861 benign Fanconi anemia 2020-11-25 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001256618 SCV001426114 uncertain significance 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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