ClinVar Miner

Submissions for variant NM_013247.5(HTRA2):c.354G>A (p.Leu118=)

gnomAD frequency: 0.00121  dbSNP: rs199735424
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000902256 SCV001046671 likely benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001142851 SCV001303340 likely benign Parkinson disease 13, autosomal dominant, susceptibility to 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000902256 SCV001821003 likely benign not provided 2020-12-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000902256 SCV002063876 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing HTRA2: BP4, BP7

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