ClinVar Miner

Submissions for variant NM_001282684.2(KCTD17):c.916C>G (p.His306Asp)

gnomAD frequency: 0.00156  dbSNP: rs146711968
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000689541 SCV000817195 likely benign Myoclonic dystonia 26 2023-12-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437395 SCV004147832 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing KCTD17: BP4, BS1
PreventionGenetics, part of Exact Sciences RCV003945711 SCV004758268 likely benign KCTD17-related disorder 2020-02-25 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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