ClinVar Miner

Submissions for variant NM_000359.3(TGM1):c.365C>T (p.Ser122Leu)

gnomAD frequency: 0.00492  dbSNP: rs141486741
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000884032 SCV001027385 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001113923 SCV001271736 likely benign Autosomal recessive congenital ichthyosis 1 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genome-Nilou Lab RCV001113923 SCV002764084 likely benign Autosomal recessive congenital ichthyosis 1 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000884032 SCV005211899 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001113923 SCV001456457 benign Autosomal recessive congenital ichthyosis 1 2019-11-11 no assertion criteria provided clinical testing

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