ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.372G>A (p.Thr124=) (rs34016116)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710556 SCV000840797 benign not provided 2017-10-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717213 SCV000848062 benign Autism spectrum disorder 2016-06-08 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001083351 SCV001014770 benign KBG syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000710556 SCV001759181 likely benign not provided 2021-01-15 criteria provided, single submitter clinical testing

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