ClinVar Miner

Submissions for variant NM_002029.4(FPR1):c.568A>T (p.Arg190Trp)

gnomAD frequency: 0.11833  dbSNP: rs5030880
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002239272 SCV001726847 benign Gingival disorder 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001655668 SCV001867521 benign not provided 2020-10-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 12595898)
Breakthrough Genomics, Breakthrough Genomics RCV001655668 SCV005312201 benign not provided criteria provided, single submitter not provided
OMIM RCV001035430 SCV001198757 benign N-FORMYLPEPTIDE RECEPTOR POLYMORPHISM 2020-04-10 no assertion criteria provided literature only
GenomeConnect, ClinGen RCV001655668 SCV002074645 not provided not provided no assertion provided phenotyping only Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.

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