ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3337del (p.Glu1113fs)

dbSNP: rs1553403656
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672773 SCV000797912 likely pathogenic Alstrom syndrome 2018-02-14 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000672773 SCV004242392 pathogenic Alstrom syndrome 2024-01-10 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM3,PM2_SUP

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