ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2079C>T (p.Val693=)

gnomAD frequency: 0.00018  dbSNP: rs150206155
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 RCV000864680 SCV001005512 likely benign Fanconi anemia 2023-10-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501235 SCV002809386 likely benign Fanconi anemia complementation group P 2021-10-12 criteria provided, single submitter clinical testing

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