ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.2148T>C (p.Ser716=)

gnomAD frequency: 0.00004  dbSNP: rs746698199
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000861281 SCV001846603 likely benign not provided 2019-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000861281 SCV001962288 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing MBD5: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV002064431 SCV002325592 likely benign Intellectual disability, autosomal dominant 1 2023-09-20 criteria provided, single submitter clinical testing

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