ClinVar Miner

Submissions for variant NM_000381.4(MID1):c.1361A>G (p.Gln454Arg) (rs1556004400)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623346 SCV000742879 uncertain significance Inborn genetic diseases 2017-09-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659851 SCV000781730 likely pathogenic Opitz GBBB syndrome, type I 2016-11-01 criteria provided, single submitter clinical testing

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