ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.1208C>G (p.Ser403Ter)

dbSNP: rs1248541208
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University RCV001095370 SCV001142509 pathogenic Alstrom syndrome 2019-11-01 criteria provided, single submitter clinical testing

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