ClinVar Miner

Submissions for variant NM_001174150.2(ARL13B):c.720C>T (p.Leu240=)

gnomAD frequency: 0.00001  dbSNP: rs752196300
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471697 SCV000555672 likely benign Joubert syndrome 8 2024-01-22 criteria provided, single submitter clinical testing

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