ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5245A>G (p.Thr1749Ala) (rs546111188)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000192985 SCV000246359 likely benign not specified 2015-05-27 criteria provided, single submitter clinical testing
Invitae RCV000867580 SCV001008824 benign Alstrom syndrome 2020-12-06 criteria provided, single submitter clinical testing
GeneDx RCV001640283 SCV001860159 benign not provided 2019-07-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26352687)

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