ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.36GGA[11] (p.Glu27_Glu28del) (rs55889738)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204411 SCV000262230 benign Alstrom syndrome 2017-08-11 criteria provided, single submitter clinical testing
Invitae RCV000860399 SCV001000441 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000204411 SCV001769050 benign Alstrom syndrome 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV000860399 SCV001960513 benign not provided 2016-09-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24122612, 25468891)
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000860399 SCV001800540 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701789 SCV001927726 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001701789 SCV001974308 benign not specified no assertion criteria provided clinical testing

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