ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5368G>A (p.Gly1790Arg)

dbSNP: rs1060499580
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477822 SCV000536769 uncertain significance Alstrom syndrome 2015-09-25 no assertion criteria provided research

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