ClinVar Miner

Submissions for variant NM_138927.4(SON):c.580A>G (p.Met194Val)

gnomAD frequency: 0.00011  dbSNP: rs146870437
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002132066 SCV002406585 benign not provided 2023-10-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV003015349 SCV003686999 likely benign Inborn genetic diseases 2021-09-14 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.
CeGaT Center for Human Genetics Tuebingen RCV002132066 SCV005092123 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing SON: BP4

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