ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.8598del (p.Glu2867fs)

dbSNP: rs2103892422
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV001530481 SCV001745324 pathogenic Alstrom syndrome 2021-05-11 no assertion criteria provided clinical testing

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