ClinVar Miner

Submissions for variant NM_001145358.2(SIN3A):c.1428T>C (p.Ser476=)

gnomAD frequency: 0.00645  dbSNP: rs58376508
Minimum review status: Collection method:
Minimum conflict level:
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 RCV000960872 SCV001107899 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489356 SCV002794833 likely benign SIN3A-related intellectual disability syndrome due to a point mutation 2022-05-11 criteria provided, single submitter clinical testing

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