ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10788G>C (p.Val3596=) (rs45445398)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD, LLC RCV000403846 SCV000336148 likely benign not specified 2017-10-18 criteria provided, single submitter clinical testing
GeneDx RCV001705415 SCV000533899 likely benign not provided 2021-10-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17594715)
Invitae RCV000473634 SCV000554307 likely benign Alstrom syndrome 2020-12-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000403846 SCV001983643 likely benign not specified 2021-09-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV000473634 SCV001453046 likely benign Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000403846 SCV001923858 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001705415 SCV001970345 likely benign not provided no assertion criteria provided clinical testing

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