ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.36GGA[18] (p.Glu24_Glu28dup) (rs55889738)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206647 SCV000261310 benign Alstrom syndrome 2019-12-30 criteria provided, single submitter clinical testing
GeneDx RCV001729457 SCV001982025 likely benign not provided 2021-04-02 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV001729457 SCV001979073 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729457 SCV001980599 likely benign not provided no assertion criteria provided clinical testing

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