ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.4557A>G (p.Arg1519=)

dbSNP: rs1681478303
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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 RCV002214164 SCV002496517 likely benign not provided 2022-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003101236 SCV003336062 likely benign Intellectual disability, autosomal dominant 1 2023-10-06 criteria provided, single submitter clinical testing

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