ClinVar Miner

Submissions for variant NM_144599.5(NIPA1):c.24GGC[9] (p.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
Labcorp Genetics (formerly Invitae), Labcorp RCV000231496 SCV000291391 likely benign Hereditary spastic paraplegia 6 2025-01-21 criteria provided, single submitter clinical testing
GeneDx RCV001697267 SCV000569901 benign not provided 2019-12-30 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000479863 SCV000860547 likely benign not specified 2018-04-10 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000231496 SCV001368129 benign Hereditary spastic paraplegia 6 2019-07-05 criteria provided, single submitter clinical testing This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2. This variant was detected in homozygous state.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848015 SCV002105365 likely benign Hereditary spastic paraplegia 2020-08-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001697267 SCV002497737 benign not provided 2024-07-01 criteria provided, single submitter clinical testing NIPA1: BS1, BS2

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