ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4411_4412del (p.Val1471fs)

dbSNP: rs2103782701
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Reproductive Medicine and Prenatal Diagnosis, The First Hospital of Jilin University RCV002274812 SCV002559238 pathogenic Alstrom syndrome 2022-06-18 criteria provided, single submitter clinical testing The c.4414_4415delGT (p.V1472Nfs*26) variant in ALMS1 has been reported in two Chinese patients with ALMS.

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