ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11668+1G>A

gnomAD frequency: 0.00001  dbSNP: rs1181992959
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001375482 SCV001572329 pathogenic Alstrom syndrome 2021-04-26 no assertion criteria provided clinical testing we found this variant in a 14-year-old boy with visual & hearing impairment, Insulin resistant diabetes, truncal obesity and photophobia in a homozygous state.

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