ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11669-11del

dbSNP: rs1261279730
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673686 SCV000798918 uncertain significance Alstrom syndrome 2018-03-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000673686 SCV004301231 likely benign Alstrom syndrome 2023-09-08 criteria provided, single submitter clinical testing

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