ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.237T>C (p.Ala79=)

gnomAD frequency: 0.00005  dbSNP: rs375620914
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002069263 SCV002400687 likely benign Fanconi anemia 2023-10-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491590 SCV002798147 likely benign Fanconi anemia complementation group P 2022-03-22 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001194817 SCV001364619 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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