ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.7473C>T (p.Ser2491=)

dbSNP: rs1572938980
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000904902 SCV001049455 likely benign Alstrom syndrome 2023-12-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323761 SCV004029132 likely benign not specified 2023-07-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV000904902 SCV002082874 likely benign Alstrom syndrome 2020-01-28 no assertion criteria provided clinical testing

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