ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10079-11C>A

dbSNP: rs368250605
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674179 SCV000799468 uncertain significance Alstrom syndrome 2018-04-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000674179 SCV002422908 likely benign Alstrom syndrome 2021-03-11 criteria provided, single submitter clinical testing

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