ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.123C>G (p.Leu41=) (rs146904022)

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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 RCV000720937 SCV000851821 benign History of neurodevelopmental disorder 2018-09-02 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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000731543 SCV000859375 likely benign not specified 2018-02-08 criteria provided, single submitter clinical testing
Invitae RCV000875710 SCV001018175 benign Mucopolysaccharidosis, MPS-II 2020-11-17 criteria provided, single submitter clinical testing

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