ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1706C>T (p.Pro569Leu)

gnomAD frequency: 0.00007  dbSNP: rs534528576
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463593 SCV000558664 likely benign Fanconi anemia 2024-01-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000502753 SCV000597145 likely benign not specified 2015-10-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489118 SCV002794866 likely benign Fanconi anemia complementation group P 2021-08-13 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV002489118 SCV004015500 likely benign Fanconi anemia complementation group P 2023-07-07 criteria provided, single submitter clinical testing

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