ClinVar Miner

Submissions for variant NM_138927.4(SON):c.1487C>T (p.Ala496Val)

dbSNP: rs376954101
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002124435 SCV002443318 benign not provided 2024-01-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002124435 SCV005074725 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing SON: BP4, BS1

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