ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.1080C>T (p.Arg360=)

dbSNP: rs782746850
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001438379 SCV001641251 likely benign Joubert syndrome 15 2020-02-21 criteria provided, single submitter clinical testing

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