ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.5470C>T (p.Gln1824Ter)

dbSNP: rs1037474114
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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 RCV001336772 SCV001530248 uncertain significance Fanconi anemia complementation group P 2018-02-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. The c.421G>T (p.G141W) variant has been previously reported in patients with breast cancer [PMID: 23211700, 23840564]

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