ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.9540-7dup

dbSNP: rs750386293
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667196 SCV000791614 uncertain significance Alstrom syndrome 2017-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000667196 SCV002435682 benign Alstrom syndrome 2025-01-28 criteria provided, single submitter clinical testing

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