ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.8883G>A (p.Pro2961=) (rs367862140)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441258 SCV000535466 likely benign not specified 2016-12-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Counsyl RCV000670946 SCV000795870 uncertain significance Alstrom syndrome 2017-11-21 criteria provided, single submitter clinical testing
Invitae RCV000867846 SCV001009116 likely benign not provided 2018-10-30 criteria provided, single submitter clinical testing
Invitae RCV000670946 SCV001708931 likely benign Alstrom syndrome 2018-10-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000670946 SCV001459586 uncertain significance Alstrom syndrome 2020-01-24 no assertion criteria provided clinical testing

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