ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.754G>A (p.Asp252Asn) (rs146458524)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487550 SCV000575663 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718814 SCV000849678 benign History of neurodevelopmental disorder 2017-05-30 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
Invitae RCV001081450 SCV001006270 benign Mucopolysaccharidosis, MPS-II 2019-12-31 criteria provided, single submitter clinical testing

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