ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.4088T>C (p.Ile1363Thr)

gnomAD frequency: 0.00004  dbSNP: rs748142226
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001722447 SCV000621067 likely benign not provided 2018-03-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000823751 SCV000964621 likely benign Intellectual disability, autosomal dominant 1 2023-12-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV000823751 SCV001524505 uncertain significance Intellectual disability, autosomal dominant 1 2019-02-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV004984947 SCV005618142 likely benign Inborn genetic diseases 2024-11-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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