ClinVar Miner

Submissions for variant NM_030912.3(TRIM8):c.1456C>G (p.Pro486Ala)

gnomAD frequency: 0.00011  dbSNP: rs552806334
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 RCV002568744 SCV003492673 benign not provided 2023-08-04 criteria provided, single submitter clinical testing
New York Genome Center RCV001254998 SCV001431087 uncertain significance Seizure 2020-03-10 no assertion criteria provided clinical testing

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