ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4852C>G (p.Gln1618Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003287522 SCV003986522 uncertain significance Inborn genetic diseases 2023-05-24 criteria provided, single submitter clinical testing The c.4852C>G (p.Q1618E) alteration is located in exon 14 (coding exon 13) of the SLX4 gene. This alteration results from a C to G substitution at nucleotide position 4852, causing the glutamine (Q) at amino acid position 1618 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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