ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.4419G>T (p.Leu1473=)

dbSNP: rs748173028
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997217 SCV001152421 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing MBD5: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV002549967 SCV002958727 likely benign Intellectual disability, autosomal dominant 1 2023-08-04 criteria provided, single submitter clinical testing

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