ClinVar Miner

Submissions for variant NM_002181.4(IHH):c.618C>T (p.Ala206=)

gnomAD frequency: 0.00163  dbSNP: rs3731879
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000389029 SCV000337951 benign not specified 2015-12-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000344639 SCV000427650 benign Brachydactyly type A1 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 RCV000953447 SCV001100020 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000953447 SCV001908472 benign not provided 2019-12-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000953447 SCV005244589 benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000953447 SCV002035441 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000389029 SCV002037626 benign not specified no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003897614 SCV004708810 benign IHH-related disorder 2019-03-07 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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