ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.183G>A (p.Lys61=)

gnomAD frequency: 0.00005  dbSNP: rs140522551
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001484265 SCV001688681 likely benign Intellectual disability, autosomal dominant 1 2025-01-23 criteria provided, single submitter clinical testing
GeneDx RCV001587430 SCV001826778 likely benign not provided 2019-11-19 criteria provided, single submitter clinical testing

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