ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.12438G>T (p.Arg4146=) (rs35902379)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000732303 SCV000533152 likely benign not provided 2018-06-08 criteria provided, single submitter clinical testing
Invitae RCV001080112 SCV000631763 benign Alstrom syndrome 2020-11-26 criteria provided, single submitter clinical testing
Eurofins NTD, LLC RCV000732303 SCV000860236 uncertain significance not provided 2018-03-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000424426 SCV001363028 likely benign not specified 2019-11-16 criteria provided, single submitter clinical testing

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