ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10467C>T (p.His3489=)

gnomAD frequency: 0.00001  dbSNP: rs371631738
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665001 SCV000789053 uncertain significance Alstrom syndrome 2016-12-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000665001 SCV002461834 likely benign Alstrom syndrome 2024-03-25 criteria provided, single submitter clinical testing

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