ClinVar Miner

Submissions for variant NM_015087.5(SPART):c.75A>G (p.Leu25=)

gnomAD frequency: 0.00113  dbSNP: rs148399669
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000196181 SCV000253530 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000196181 SCV000533849 benign not provided 2021-01-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001109319 SCV001266642 uncertain significance Troyer syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen RCV000196181 SCV001746182 likely benign not provided 2021-04-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000440565 SCV001880528 benign not specified 2021-01-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847895 SCV002105803 likely benign Hereditary spastic paraplegia 2017-07-11 criteria provided, single submitter clinical testing

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