ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.764+19C>G (rs77738617)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000596837 SCV000700312 benign not specified 2017-01-31 criteria provided, single submitter clinical testing
Invitae RCV001515738 SCV001723878 benign Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V 2020-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000675730 SCV001779188 likely benign not provided 2018-09-26 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675730 SCV000801446 likely benign not provided 2017-04-12 no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000596837 SCV001923417 benign not specified no assertion criteria provided clinical testing

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