ClinVar Miner

Submissions for variant NM_144599.5(NIPA1):c.24GGC[10] (p.Ala15_Ala16dup)

dbSNP: rs531550505
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173569 SCV000224693 benign not specified 2015-04-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000228668 SCV000291390 likely benign Hereditary spastic paraplegia 6 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000368522 SCV000390094 likely benign Spastic paraplegia, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001697203 SCV000571810 benign not provided 2020-05-07 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016)
Unit for Genetic & Epidemiological Research on Neurological Disorders, Instituto de Investigação e Inovação em Saúde RCV000516128 SCV000574494 uncertain significance Hereditary spastic paraplegia 2017-03-07 criteria provided, single submitter research
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV000516128 SCV002105254 benign Hereditary spastic paraplegia 2021-12-13 criteria provided, single submitter clinical testing

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