ClinVar Miner

Submissions for variant NM_032304.4(HAGHL):c.325G>C (p.Gly109Arg)

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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 RCV004930791 SCV005590046 uncertain significance not specified 2024-10-20 criteria provided, single submitter clinical testing The c.325G>C (p.G109R) alteration is located in exon 4 (coding exon 4) of the HAGHL gene. This alteration results from a G to C substitution at nucleotide position 325, causing the glycine (G) at amino acid position 109 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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