ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1065G>A (p.Gln355=)

gnomAD frequency: 0.00022  dbSNP: rs200183071
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000475575 SCV000558657 likely benign Fanconi anemia 2024-10-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489117 SCV002796858 likely benign Fanconi anemia complementation group P 2021-11-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424030 SCV004144924 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing SLX4: BP4, BP7

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