ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.5097C>T (p.Asp1699=)

gnomAD frequency: 0.00002  dbSNP: rs755570293
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428685 SCV000513545 likely benign not provided 2020-09-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000871058 SCV001012654 likely benign Intellectual disability, autosomal dominant 1 2023-05-16 criteria provided, single submitter clinical testing

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