Submissions for variant NM_018319.4(TDP1):c.302C>T (p.Pro101Leu)

gnomAD frequency: 0.00620  dbSNP: rs35455108

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000756757	SCV000389393	likely benign	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000756757	SCV000884663	benign	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	2023-09-06	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV001288860	SCV001476254	benign	not specified	2020-02-05	criteria provided, single submitter	clinical testing
GeneDx	RCV001618553	SCV001845281	benign	not provided	2021-05-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001618553	SCV005217850	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV001288860	SCV001918175	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001288860	SCV001974399	benign	not specified		no assertion criteria provided	clinical testing