ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3375A>G (p.Val1125=) (rs189914793)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD, LLC RCV000727078 SCV000705444 uncertain significance not provided 2017-02-15 criteria provided, single submitter clinical testing
GeneDx RCV000727078 SCV000727274 likely benign not provided 2020-06-30 criteria provided, single submitter clinical testing
Invitae RCV001088498 SCV001006384 likely benign Alstrom syndrome 2020-11-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000592923 SCV001339090 likely benign not specified 2020-03-21 criteria provided, single submitter clinical testing

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