ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.274G>A (p.Ala92Thr)

gnomAD frequency: 0.00004  dbSNP: rs770801894
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000645258 SCV000767000 likely benign Intellectual disability, autosomal dominant 1 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314057 SCV000848562 likely benign Inborn genetic diseases 2024-02-12 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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