ClinVar Miner

Submissions for variant NM_001382347.1(MYO5A):c.5234+12C>T

gnomAD frequency: 0.00179  dbSNP: rs113067572
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 RCV001730277 SCV002439446 benign not provided 2025-01-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001730277 SCV001978400 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001730278 SCV001978853 benign not specified no assertion criteria provided clinical testing

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