ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.925A>G (p.Thr309Ala) (rs145807417)

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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 RCV000179733 SCV000232029 benign not specified 2015-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715643 SCV000846473 benign History of neurodevelopmental disorder 2016-04-18 criteria provided, single submitter clinical testing Does not segregate with disease in family study (genes with complete penetrance);In silico models in agreement (benign)
Invitae RCV000990962 SCV001014704 benign Mucopolysaccharidosis, MPS-II 2020-12-04 criteria provided, single submitter clinical testing
Mendelics RCV000990962 SCV001142035 benign Mucopolysaccharidosis, MPS-II 2019-05-28 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675877 SCV000801602 uncertain significance not provided 2017-09-05 no assertion criteria provided clinical testing

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