ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6847C>T (p.Gln2283Ter) (rs1221781038)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624386 SCV000742056 pathogenic Inborn genetic diseases 2017-01-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000509301 SCV000743900 pathogenic KBG syndrome 2017-07-28 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509301 SCV000607366 not provided KBG syndrome no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000509301 SCV000745883 pathogenic KBG syndrome 2015-02-26 no assertion criteria provided clinical testing

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