ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.422G>A (p.Arg141Gln)

gnomAD frequency: 0.00003  dbSNP: rs200245855
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522311 SCV000617984 likely benign not provided 2019-10-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314908 SCV000848764 likely benign Inborn genetic diseases 2017-05-05 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001089226 SCV001005500 likely benign Intellectual disability, autosomal dominant 1 2024-10-23 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000522311 SCV001713999 uncertain significance not provided 2019-05-05 criteria provided, single submitter clinical testing

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