ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.7414G>C (p.Gly2472Arg)

dbSNP: rs1672006091
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323844 SCV004029133 uncertain significance not specified 2023-07-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278764 SCV001465796 uncertain significance Alstrom syndrome 2020-08-13 no assertion criteria provided clinical testing

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