ClinVar Miner

Submissions for variant NM_145868.2(ANXA11):c.390C>T (p.Gly130=)

gnomAD frequency: 0.03162  dbSNP: rs35694404
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001671036 SCV001884155 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001671036 SCV002334810 benign not provided 2025-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260280 SCV002539330 benign Inclusion body myopathy and brain white matter abnormalities 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001671036 SCV005318283 benign not provided criteria provided, single submitter not provided

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