ClinVar Miner

Submissions for variant NM_031471.6(FERMT3):c.1506C>T (p.Leu502=)

gnomAD frequency: 0.17484  dbSNP: rs3802933
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454692 SCV000539175 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Labcorp Genetics (formerly Invitae), Labcorp RCV001518720 SCV001727468 benign Leukocyte adhesion deficiency 3 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001598669 SCV001827485 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001598669 SCV005316802 benign not provided criteria provided, single submitter not provided

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