ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4713C>T (p.Tyr1571=)

dbSNP: rs2103783750
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001418503 SCV001620733 likely benign Alstrom syndrome 2023-06-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820115 SCV002068630 likely benign not specified 2019-02-15 criteria provided, single submitter clinical testing

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