ClinVar Miner

Submissions for variant NM_001282684.2(KCTD17):c.234C>T (p.Phe78=)

gnomAD frequency: 0.00005  dbSNP: rs756682413
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001474176 SCV001678344 likely benign Myoclonic dystonia 26 2019-02-12 criteria provided, single submitter clinical testing

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