ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4272C>T (p.Asp1424=)

gnomAD frequency: 0.00003  dbSNP: rs771297945
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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 RCV002069264 SCV002433399 likely benign Fanconi anemia 2024-01-22 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001194854 SCV001364687 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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