ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) (rs1052471595)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624490 SCV000741285 likely pathogenic Inborn genetic diseases 2017-03-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Counsyl RCV000501703 SCV000794338 uncertain significance Mucopolysaccharidosis, MPS-III-B 2017-09-24 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000501703 SCV000590927 pathogenic Mucopolysaccharidosis, MPS-III-B 2018-08-07 criteria provided, single submitter clinical testing

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