ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11669-12C>T

gnomAD frequency: 0.00001  dbSNP: rs774970704
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666907 SCV000791279 uncertain significance Alstrom syndrome 2017-05-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000666907 SCV003027267 likely benign Alstrom syndrome 2025-01-11 criteria provided, single submitter clinical testing

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