ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.36GGA[14] (p.Glu28dup)

dbSNP: rs55889738
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003451819 SCV004183318 benign Alstrom syndrome 2023-12-12 criteria provided, single submitter research
Molecular Genetics, Royal Melbourne Hospital RCV003451819 SCV004812484 benign Alstrom syndrome 2023-07-07 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573991 SCV001800652 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701202 SCV001926988 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001701202 SCV001969290 benign not specified no assertion criteria provided clinical testing

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