ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.3951C>T (p.Ser1317=)

gnomAD frequency: 0.00002  dbSNP: rs762115057
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518051 SCV000614058 likely benign not specified 2017-03-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001851445 SCV002184652 likely benign Intellectual disability, autosomal dominant 1 2023-08-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004546512 SCV005041324 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing MBD5: BP4, BP7

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