ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser) (rs764815033)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662123 SCV000784466 uncertain significance Mucopolysaccharidosis, MPS-III-B 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662124 SCV000784467 uncertain significance Charcot-Marie-Tooth disease, axonal type 2V 2018-03-05 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765354 SCV000896619 uncertain significance Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V 2018-10-31 criteria provided, single submitter clinical testing

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