ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.376G>C (p.Glu126Gln)

dbSNP: rs1276607391
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333687 SCV001526347 uncertain significance KBG syndrome 2018-02-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001333687 SCV004516992 benign KBG syndrome 2023-09-14 criteria provided, single submitter clinical testing

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