ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2160+18C>T

gnomAD frequency: 0.00040  dbSNP: rs373726275
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002216570 SCV002368041 likely benign Fanconi anemia 2023-12-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486832 SCV002798482 likely benign Fanconi anemia complementation group P 2021-10-08 criteria provided, single submitter clinical testing

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