ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.3634G>A (p.Ala1212Thr)

gnomAD frequency: 0.00001  dbSNP: rs574844562
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000864487 SCV001005294 likely benign Fanconi anemia 2023-09-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501232 SCV002806606 likely benign Fanconi anemia complementation group P 2021-08-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424389 SCV004144902 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing SLX4: BP4

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