ClinVar Miner

Submissions for variant NM_014967.5(FAN1):c.1520G>A (p.Arg507His)

dbSNP: rs150393409
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Precision Medicine, Vanderbilt University Medical Center RCV000760173 SCV000889992 uncertain significance Karyomegalic interstitial nephritis 2018-03-16 criteria provided, single submitter research
Invitae RCV000960066 SCV001107013 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000960066 SCV004131576 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing FAN1: BP4, BS2

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