ClinVar Miner

Submissions for variant NM_000494.4(COL17A1):c.384T>C (p.Ser128=)

gnomAD frequency: 0.01786  dbSNP: rs17116460
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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 RCV000389569 SCV000360282 benign Junctional epidermolysis bullosa, non-Herlitz type 2018-01-12 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 RCV000962050 SCV001109115 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000962050 SCV001759517 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000962050 SCV005317128 benign not provided criteria provided, single submitter not provided

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