ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4824A>G (p.Ser1608=)

gnomAD frequency: 0.00001  dbSNP: rs767845523
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002196104 SCV002489555 likely benign Fanconi anemia 2023-04-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505870 SCV002810092 likely benign Fanconi anemia complementation group P 2022-04-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003408162 SCV004144890 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing SLX4: BP4, BP7

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