ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.573A>G (p.Gln191=)

gnomAD frequency: 0.00001  dbSNP: rs188689135
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719107 SCV000729606 likely benign not provided 2020-06-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002528727 SCV003471785 likely benign Intellectual disability, autosomal dominant 1 2023-10-30 criteria provided, single submitter clinical testing

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