ClinVar Miner

Submissions for variant NM_145868.2(ANXA11):c.1276+80G>T

gnomAD frequency: 0.10122  dbSNP: rs112550067
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001668092 SCV001891222 benign not provided 2021-05-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260296 SCV002539310 benign Inclusion body myopathy and brain white matter abnormalities 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001668092 SCV005318254 benign not provided criteria provided, single submitter not provided

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