ClinVar Miner

Submissions for variant NM_015167.3(JMJD6):c.331A>G (p.Lys111Glu)

dbSNP: rs2509686377
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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 RCV004344404 SCV004078315 uncertain significance not specified 2023-06-21 criteria provided, single submitter clinical testing The c.331A>G (p.K111E) alteration is located in exon 2 (coding exon 2) of the JMJD6 gene. This alteration results from a A to G substitution at nucleotide position 331, causing the lysine (K) at amino acid position 111 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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