ClinVar Miner

Submissions for variant NM_003386.3(ZAN):c.6563G>A (p.Gly2188Glu)

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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 RCV004686036 SCV005179340 uncertain significance not specified 2024-03-29 criteria provided, single submitter clinical testing The c.6563G>A (p.G2188E) alteration is located in exon 35 (coding exon 34) of the ZAN gene. This alteration results from a G to A substitution at nucleotide position 6563, causing the glycine (G) at amino acid position 2188 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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