ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.4950C>T (p.Pro1650=)

dbSNP: rs148394839
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001400987 SCV001602798 likely benign Intellectual disability, autosomal dominant 1 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001692378 SCV001910306 likely benign not provided 2020-04-08 criteria provided, single submitter clinical testing

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