ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.12299-15T>C

dbSNP: rs1553422033
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669229 SCV000793960 uncertain significance Alstrom syndrome 2017-09-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000669229 SCV002377650 likely benign Alstrom syndrome 2024-01-04 criteria provided, single submitter clinical testing

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