ClinVar Miner

Submissions for variant NM_000494.4(COL17A1):c.1062C>T (p.Ala354=)

gnomAD frequency: 0.56681  dbSNP: rs805701
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246164 SCV000304512 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000265171 SCV000360271 benign Junctional epidermolysis bullosa, non-Herlitz type 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.
Genome-Nilou Lab RCV000265171 SCV001821783 benign Junctional epidermolysis bullosa, non-Herlitz type 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001589233 SCV001821784 benign Epithelial recurrent erosion dystrophy 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001668433 SCV001889065 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001668433 SCV002467644 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001668433 SCV005317118 benign not provided criteria provided, single submitter not provided

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