ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11117C>G (p.Ser3706Cys) (rs533965968)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542797 SCV000631754 benign Alstrom syndrome 2020-12-04 criteria provided, single submitter clinical testing
GeneDx RCV001692168 SCV001913709 benign not provided 2019-03-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24400638)

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