ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.4199C>T (p.Pro1400Leu)

gnomAD frequency: 0.00001  dbSNP: rs1057522316
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704273 SCV000527117 likely benign not provided 2019-01-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000525782 SCV000645804 benign Intellectual disability, autosomal dominant 1 2025-01-06 criteria provided, single submitter clinical testing

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