ClinVar Miner

Submissions for variant NM_014967.5(FAN1):c.1851C>T (p.Ser617=)

gnomAD frequency: 0.01439  dbSNP: rs118060760
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001592125 SCV001822392 likely benign not provided 2019-12-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001592125 SCV002398971 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501958 SCV002813580 likely benign Karyomegalic interstitial nephritis 2021-12-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001592125 SCV005213852 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001796605 SCV002035169 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001592125 SCV002036189 likely benign not provided no assertion criteria provided clinical testing

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