ClinVar Miner

Submissions for variant NM_001282684.2(KCTD17):c.405C>T (p.His135=)

gnomAD frequency: 0.80939  dbSNP: rs710185
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001518492 SCV001727190 benign Myoclonic dystonia 26 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001647313 SCV001858276 benign not provided 2018-09-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001647313 SCV005277190 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003980565 SCV004798199 benign KCTD17-related disorder 2019-09-19 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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