ClinVar Miner

Submissions for variant NM_001282684.2(KCTD17):c.331G>A (p.Gly111Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002814050 SCV003605906 uncertain significance Inborn genetic diseases 2022-12-21 criteria provided, single submitter clinical testing The c.352G>A (p.G118S) alteration is located in exon 3 (coding exon 3) of the KCTD17 gene. This alteration results from a G to A substitution at nucleotide position 352, causing the glycine (G) at amino acid position 118 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003777813 SCV004642497 likely benign Myoclonic dystonia 26 2023-08-16 criteria provided, single submitter clinical testing

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