ClinVar Miner

Submissions for variant NM_000360.4(TH):c.210T>C (p.Ala70=)

gnomAD frequency: 0.03941  dbSNP: rs7950050
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249899 SCV000317144 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000353443 SCV000369931 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 RCV000353443 SCV000563358 benign Autosomal recessive DOPA responsive dystonia 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713850 SCV000844488 benign not provided 2017-11-02 criteria provided, single submitter clinical testing
GeneDx RCV000713850 SCV001869714 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000713850 SCV005321304 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000353443 SCV001463824 benign Autosomal recessive DOPA responsive dystonia 2020-09-16 no assertion criteria provided clinical testing

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