ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3039_3042del (p.Gln1014fs)

dbSNP: rs1671883188
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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 Genetics in Ophthalmology, Institut Imagine RCV001255904 SCV001432507 pathogenic Alstrom syndrome no assertion criteria provided research

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