ClinVar Miner

Submissions for variant NM_145868.2(ANXA11):c.456C>T (p.Tyr152=)

gnomAD frequency: 0.01293  dbSNP: rs34003188
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002080527 SCV002372204 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260410 SCV002539328 likely benign Inclusion body myopathy and brain white matter abnormalities 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002080527 SCV005318282 benign not provided criteria provided, single submitter not provided

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