ClinVar Miner

Submissions for variant NM_031471.6(FERMT3):c.729C>T (p.Ala243=)

gnomAD frequency: 0.05878  dbSNP: rs17851033
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV001522182 SCV001731670 benign Leukocyte adhesion deficiency 3 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001658226 SCV001872052 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001658226 SCV005316793 benign not provided criteria provided, single submitter not provided

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