ClinVar Miner

Submissions for variant NM_001282684.2(KCTD17):c.390+6G>A

gnomAD frequency: 0.00111  dbSNP: rs149432408
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 RCV000653124 SCV000775000 likely benign Myoclonic dystonia 26 2023-11-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704179 SCV005206396 likely benign not provided criteria provided, single submitter not provided

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