ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11223G>A (p.Glu3741=) (rs28730859)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001702781 SCV000534604 likely benign not provided 2021-03-04 criteria provided, single submitter clinical testing
Invitae RCV000634815 SCV000756159 likely benign Alstrom syndrome 2020-12-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000433368 SCV001363025 likely benign not specified 2019-06-24 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702781 SCV001927733 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702781 SCV001970249 likely benign not provided no assertion criteria provided clinical testing

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