ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.12150C>A (p.Ser4050=)

dbSNP: rs1553421877
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664506 SCV000788477 uncertain significance Alstrom syndrome 2017-01-16 criteria provided, single submitter clinical testing
Invitae RCV000664506 SCV002437050 likely benign Alstrom syndrome 2021-12-01 criteria provided, single submitter clinical testing

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