ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.3098G>T (p.Ser1033Ile)

gnomAD frequency: 0.00004  dbSNP: rs201522384
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000203190 SCV000257848 uncertain significance not specified 2015-07-15 criteria provided, single submitter clinical testing
Invitae RCV001853267 SCV002165135 likely benign KBG syndrome 2022-07-06 criteria provided, single submitter clinical testing

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