ClinVar Miner

Submissions for variant NM_015346.4(ZFYVE26):c.3248_3253del (p.Leu1083_Ser1084del)

dbSNP: rs761454264
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086418 SCV000544714 likely benign Spastic paraplegia 2024-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000470392 SCV001149250 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848800 SCV002106038 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
GeneDx RCV000470392 SCV004031833 uncertain significance not provided 2023-08-31 criteria provided, single submitter clinical testing In-frame deletion of 2 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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