ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.-831+9dup

gnomAD frequency: 0.00061  dbSNP: rs796052705
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188058 SCV000241661 benign not specified 2014-03-24 criteria provided, single submitter clinical testing The variant is found in INFANT-EPI,EPILEPSY panel(s).
Illumina Laboratory Services, Illumina RCV000270835 SCV000416674 uncertain significance Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003436979 SCV004154059 likely benign not provided 2024-12-01 criteria provided, single submitter clinical testing MBD5: BS1

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