ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.57G>A (p.Ala19=)

gnomAD frequency: 0.00016  dbSNP: rs200534989
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000312548 SCV000444489 benign Autosomal dominant cerebellar ataxia 2018-01-12 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 RCV000973470 SCV001121229 benign not provided 2024-01-17 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001288648 SCV001475920 benign not specified 2020-09-11 criteria provided, single submitter clinical testing
GeneDx RCV000973470 SCV001903491 benign not provided 2018-10-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488746 SCV002799943 benign Spinocerebellar ataxia type 29; Spinocerebellar ataxia type 15/16; Gillespie syndrome 2021-10-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000973470 SCV005245533 benign not provided criteria provided, single submitter not provided

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