ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.2286C>T (p.His762=)

gnomAD frequency: 0.00002  dbSNP: rs370574043
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 RCV001425985 SCV001628626 likely benign Intellectual disability, autosomal dominant 1 2024-12-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004809595 SCV005435169 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing MBD5: BP4, BP7

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