ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.12093A>G (p.Pro4031=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001438521 SCV001641397 likely benign Alstrom syndrome 2020-11-06 criteria provided, single submitter clinical testing
GeneDx RCV001732183 SCV001982364 uncertain significance not provided 2021-04-02 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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