ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4485G>C (p.Ala1495=)

gnomAD frequency: 0.00003  dbSNP: rs140872903
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000233037 SCV000291091 likely benign Fanconi anemia 2024-10-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820769 SCV002068074 likely benign not specified 2020-04-16 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000233037 SCV002529355 likely benign Fanconi anemia 2022-01-04 criteria provided, single submitter curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316304 SCV004015477 likely benign Fanconi anemia complementation group P 2023-07-07 criteria provided, single submitter clinical testing

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