ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.467C>A (p.Pro156Gln) (rs145231211)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081804 SCV000628112 benign Mucopolysaccharidosis, MPS-II 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718787 SCV000849651 benign History of neurodevelopmental disorder 2016-04-15 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675880 SCV000801605 benign not provided 2017-09-27 no assertion criteria provided clinical testing

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