ClinVar Miner

Submissions for variant NM_001282684.2(KCTD17):c.777C>T (p.Pro259=)

gnomAD frequency: 0.00015  dbSNP: rs548803912
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001397484 SCV001599232 likely benign Myoclonic dystonia 26 2024-01-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438763 SCV004147830 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing KCTD17: BP4, BP7

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