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
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000509301 SCV000745883 pathogenic KBG syndrome 2015-02-26 no assertion criteria provided 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.

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