ClinVar Miner

Submissions for variant NM_000359.3(TGM1):c.920G>A (p.Arg307Gln)

gnomAD frequency: 0.00155  dbSNP: rs146770534
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002185214 SCV002352123 benign not provided 2024-03-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498188 SCV002805864 likely benign Autosomal recessive congenital ichthyosis 1 2021-07-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002185214 SCV005291497 benign not provided criteria provided, single submitter not provided
GeneDx RCV002185214 SCV005383757 uncertain significance not provided 2023-12-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function

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