ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.4258T>G (p.Ser1420Ala)

gnomAD frequency: 0.00009  dbSNP: rs756608508
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000405803 SCV000344953 uncertain significance not provided 2016-08-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001315963 SCV001506557 likely benign Intellectual disability, autosomal dominant 1 2024-01-03 criteria provided, single submitter clinical testing
GeneDx RCV000405803 SCV002030817 likely benign not provided 2021-02-17 criteria provided, single submitter clinical testing

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