ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4585C>T (p.Gln1529Ter)

dbSNP: rs1237224833
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001293954 SCV001482659 likely pathogenic Fanconi anemia complementation group P 2020-08-30 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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