ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.1541_1542delinsAA (p.Leu514Gln)

dbSNP: rs886043802
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000265068 SCV000342068 benign not specified 2016-05-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000878105 SCV001020955 likely benign Saldino-Mainzer syndrome 2024-01-29 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001782777 SCV002026366 uncertain significance Retinitis pigmentosa 80 2021-11-04 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous with NM_014714.4:c.4354G>A._x000D_ Criteria applied: PS4_SUP, PM2_SUP, PP3

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