ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.4505A>G (p.Tyr1502Cys)

gnomAD frequency: 0.00004  dbSNP: rs773873513
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000416184 SCV000493678 uncertain significance not provided 2016-07-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002521484 SCV001025599 likely benign Intellectual disability, autosomal dominant 1 2024-04-20 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002521484 SCV003808310 uncertain significance Intellectual disability, autosomal dominant 1 2020-04-09 criteria provided, single submitter clinical testing

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