ClinVar Miner

Submissions for variant NM_020987.5(ANK3):c.4705T>G (p.Ser1569Ala) (rs375050420)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332384 SCV001524698 uncertain significance Mental retardation, autosomal recessive 37 2020-07-13 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
New York Genome Center RCV001332384 SCV001761145 uncertain significance Mental retardation, autosomal recessive 37 2020-07-03 criteria provided, single submitter clinical testing
OMIM RCV000074343 SCV000105949 uncertain significance Autistic disorder of childhood onset 2012-12-01 no assertion criteria provided literature only

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