ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln)

gnomAD frequency: 0.00020  dbSNP: rs149278000
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000724572 SCV000233141 uncertain significance not provided 2018-07-27 criteria provided, single submitter clinical testing
Invitae RCV000468202 SCV000545120 benign Intellectual disability, autosomal dominant 1 2021-10-14 criteria provided, single submitter clinical testing
GeneDx RCV000724572 SCV000617113 benign not provided 2019-12-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000724572 SCV001476679 likely benign not provided 2020-04-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000724572 SCV002063897 likely benign not provided 2021-11-01 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000678818 SCV000805004 uncertain significance developmental delay with intractable seizures 2016-11-14 no assertion criteria provided clinical testing

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