ClinVar Miner

Submissions for variant NM_000360.4(TH):c.1035G>T (p.Ala345=)

gnomAD frequency: 0.01611  dbSNP: rs11826260
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000375542 SCV000369914 benign Autosomal recessive DOPA responsive dystonia 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000375542 SCV000563353 benign Autosomal recessive DOPA responsive dystonia 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000518607 SCV000615802 benign not specified 2017-05-08 criteria provided, single submitter clinical testing
GeneDx RCV001709582 SCV001938627 benign not provided 2018-07-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000518607 SCV002051054 benign not specified 2021-12-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000375542 SCV002807503 benign Autosomal recessive DOPA responsive dystonia 2021-09-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001709582 SCV005321293 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000375542 SCV001463810 benign Autosomal recessive DOPA responsive dystonia 2020-09-16 no assertion criteria provided clinical testing

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