ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6820C>T (p.Leu2274=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001418138 SCV001620362 likely benign Alstrom syndrome 2020-06-16 criteria provided, single submitter clinical testing
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001533006 SCV001745876 pathogenic Intellectual disability 2021-07-08 criteria provided, single submitter clinical testing trans with another pathogenic variant

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