ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.718A>G (p.Asn240Asp)

gnomAD frequency: 0.00474  dbSNP: rs114744903
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000434923 SCV000510983 likely benign not provided 2017-01-05 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001084661 SCV000558632 benign Fanconi anemia 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000434923 SCV001792574 likely benign not provided 2019-06-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821150 SCV002068104 benign not specified 2021-04-21 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316522 SCV004015510 benign Fanconi anemia complementation group P 2023-07-07 criteria provided, single submitter clinical testing

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