ClinVar Miner

Submissions for variant NM_018685.5(ANLN):c.194C>G (p.Ser65Trp)

gnomAD frequency: 0.13215  dbSNP: rs3735400
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001513789 SCV001721471 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001513789 SCV001890700 benign not provided 2018-11-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30551077)
Genome-Nilou Lab RCV002260154 SCV002539807 benign Focal segmental glomerulosclerosis 8 2021-12-05 criteria provided, single submitter clinical testing

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