ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10368A>G (p.Leu3456=)

dbSNP: rs929142880
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665048 SCV000789106 uncertain significance Alstrom syndrome 2017-01-11 criteria provided, single submitter clinical testing
Invitae RCV000665048 SCV001614903 likely benign Alstrom syndrome 2022-09-28 criteria provided, single submitter clinical testing

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