ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.5208C>T (p.Gly1736=)

gnomAD frequency: 0.00007  dbSNP: rs569225834
Minimum review status: Collection method:
Minimum conflict level:
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 RCV001899312 SCV002131389 likely benign Fanconi anemia 2025-01-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503440 SCV002806899 uncertain significance Fanconi anemia complementation group P 2024-05-16 criteria provided, single submitter clinical testing

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