ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.5338G>A (p.Ala1780Thr) (rs75362060)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080008 SCV000754909 benign KBG syndrome 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710560 SCV000840802 benign not provided 2018-06-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717489 SCV000848341 benign Autism spectrum disorder 2017-09-05 criteria provided, single submitter clinical testing Intact protein function observed in appropriate functional assay(s)

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