ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.1957C>T (p.Gln653Ter)

dbSNP: rs2140886548
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001814723 SCV002061500 likely pathogenic Joubert syndrome 23 2021-08-18 criteria provided, single submitter clinical testing PVS1, PM2

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