ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2949C>T (p.Tyr983=)

gnomAD frequency: 0.00006  dbSNP: rs758944750
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001415648 SCV001617810 likely benign Fanconi anemia 2023-09-23 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001415648 SCV002529313 likely benign Fanconi anemia 2021-03-25 criteria provided, single submitter curation
Leiden Open Variation Database RCV001194837 SCV001364654 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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