ClinVar Miner

Submissions for variant NM_003068.5(SNAI2):c.606A>G (p.Gly202=)

dbSNP: rs370952195
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000397450 SCV000474140 likely benign Piebaldism 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825241 SCV000966525 likely benign not specified 2019-02-19 criteria provided, single submitter clinical testing The p.Gly202Gly variant in SNAI2 is classified as likely benign because it has been identified in 0.28% (102/35440) of Latino chromosomes by gnomAD (http://gnomad.broadinstitute.org), it does not alter an amino acid residue, it is not located within the splice consensus sequence, and splice prediction algorithms do not predict a newly created splice site. ACMG/AMP Criteria applied: BS1_Supporting, BP4, BP7.
Invitae RCV000902509 SCV001046933 benign not provided 2023-07-12 criteria provided, single submitter clinical testing
GeneDx RCV000902509 SCV002004567 likely benign not provided 2021-09-04 criteria provided, single submitter clinical testing

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