ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4185C>T (p.Val1395=)

gnomAD frequency: 0.00003  dbSNP: rs993089915
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002116801 SCV002386034 likely benign Fanconi anemia 2023-09-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002116801 SCV002529341 likely benign Fanconi anemia 2021-10-18 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002486870 SCV002795650 likely benign Fanconi anemia complementation group P 2021-12-23 criteria provided, single submitter clinical testing

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