ClinVar Miner

Submissions for variant NM_001174150.2(ARL13B):c.486+22del

dbSNP: rs368491848
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002538894 SCV001000496 benign Joubert syndrome 8 2020-04-08 criteria provided, single submitter clinical testing
Mendelics RCV000987297 SCV001136559 benign Joubert syndrome 1 2019-05-28 criteria provided, single submitter clinical testing

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