ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.325-6T>C

gnomAD frequency: 0.00001  dbSNP: rs760582213
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668196 SCV000792758 uncertain significance Alstrom syndrome 2017-07-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000668196 SCV001638808 likely benign Alstrom syndrome 2024-10-17 criteria provided, single submitter clinical testing

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