ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.1978_1981del (p.Asp660fs) (rs1555742500)

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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 RCV000624407 SCV000742550 pathogenic Inborn genetic diseases 2017-06-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected
Baylor Genetics RCV000059323 SCV000992738 pathogenic Bainbridge-Ropers syndrome 2017-12-31 criteria provided, single submitter clinical testing
OMIM RCV000059323 SCV000105901 pathogenic Bainbridge-Ropers syndrome 2013-02-05 no assertion criteria provided literature only
GenomeConnect, ClinGen RCV000509280 SCV000607085 not provided not provided 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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