ClinVar Miner

Submissions for variant NM_005445.4(SMC3):c.3495T>A (p.Ala1165=)

gnomAD frequency: 0.00064  dbSNP: rs142395521
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517618 SCV000615340 benign not specified 2016-10-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314904 SCV000848637 likely benign Inborn genetic diseases 2016-12-29 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.
Invitae RCV000877499 SCV001020243 benign Cornelia de Lange syndrome 3 2024-01-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962437 SCV004784490 likely benign SMC3-related disorder 2019-08-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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