ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1845C>T (p.Leu615=)

gnomAD frequency: 0.00001  dbSNP: rs1056084
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501702 SCV000597144 likely benign not specified 2016-05-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056879 SCV002356167 likely benign Fanconi anemia 2022-12-13 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000501702 SCV001364717 likely benign not specified 2012-08-31 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker.

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