ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4797C>T (p.Phe1599=)

gnomAD frequency: 0.00001  dbSNP: rs1159059195
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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 RCV002064479 SCV002396926 likely benign Fanconi anemia 2021-05-25 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001194866 SCV001364703 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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