ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5848_5849del (p.Ile1950fs)

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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 Medical Genetics, National & Kapodistrian University of Athens RCV004596014 SCV005090975 pathogenic Alstrom syndrome 2024-04-09 criteria provided, single submitter clinical testing PVS1, PM2, PP5 - The variant has been reported in ClinVar as Pathogenic by other laboratories (Variation ID: 1455031). It is expected to result in an absent or disrupted protein product. Absent from gnomAD.

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