ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.720G>A (p.Arg240=)

gnomAD frequency: 0.00002  dbSNP: rs727503997
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153455 SCV000202962 uncertain significance not provided 2014-01-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001431873 SCV001634634 likely benign Intellectual disability, autosomal dominant 1 2024-12-17 criteria provided, single submitter clinical testing

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