ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.3105C>T (p.Phe1035=)

gnomAD frequency: 0.00001  dbSNP: rs1313995893
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV001398468 SCV001600239 likely benign Fanconi anemia 2023-07-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499842 SCV002804744 likely benign Fanconi anemia complementation group P 2022-04-20 criteria provided, single submitter clinical testing

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