ClinVar Miner

Submissions for variant NM_138927.4(SON):c.2210C>T (p.Ala737Val)

gnomAD frequency: 0.00011  dbSNP: rs143709811
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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 RCV001944347 SCV002214720 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003968646 SCV004778346 likely benign SON-related disorder 2021-01-10 no assertion criteria provided 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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