ClinVar Miner

Submissions for variant NM_201525.4(ADGRG1):c.641C>T (p.Ser214Leu)

dbSNP: rs114515505
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000710139 SCV000321749 benign not provided 2020-02-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710139 SCV000612273 likely benign not provided 2017-11-22 criteria provided, single submitter clinical testing
Invitae RCV000710139 SCV001050019 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001119170 SCV001277524 benign Bilateral frontoparietal polymicrogyria 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.
Natera, Inc. RCV001119170 SCV002089392 benign Bilateral frontoparietal polymicrogyria 2019-10-18 no assertion criteria provided clinical testing

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