ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.3138C>T (p.Arg1046=)

gnomAD frequency: 0.00006  dbSNP: rs527904726
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 RCV002007831 SCV002263122 likely benign Fanconi anemia 2024-04-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005008340 SCV005641693 uncertain significance Fanconi anemia complementation group P 2024-02-23 criteria provided, single submitter clinical testing

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