ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2022C>T (p.Leu674=)

gnomAD frequency: 0.00003  dbSNP: rs139900828
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542324 SCV000626400 likely benign Fanconi anemia 2023-12-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497058 SCV002813083 likely benign Fanconi anemia complementation group P 2022-04-05 criteria provided, single submitter clinical testing

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