ClinVar Miner

Submissions for variant NM_138927.4(SON):c.4851A>G (p.Ala1617=)

gnomAD frequency: 0.00089  dbSNP: rs146914239
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000880180 SCV001023258 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000880180 SCV004153569 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing SON: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000880180 SCV005307776 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000880180 SCV001927601 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000880180 SCV001970443 likely benign not provided no assertion criteria provided clinical testing

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