ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.741G>A (p.Ala247=) (rs2806234)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038087 SCV000061753 benign not specified 2019-02-22 criteria provided, single submitter clinical testing The p.Ala247Ala variant (c.741T>A) represents a reference sequence error. It is classified as benign because it does not alter an amino acid residue and has be en identified in 0.14% (173/126656) of European chromosomes by the Genome Aggreg ation Database (gnomAD, ACMG/AMP Criteria ap plied: BA1, BP4, BP7.
GeneDx RCV000038087 SCV000168253 benign not specified 2014-05-30 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.
Invitae RCV000548688 SCV000641278 likely benign not provided 2019-02-26 criteria provided, single submitter clinical testing

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