ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1563G>A (p.Pro521=) (rs61737297)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000967703 SCV001115112 benign Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V 2020-11-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274191 SCV001458034 benign Mucopolysaccharidosis, MPS-III-B 2019-11-11 no assertion criteria provided clinical testing

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