ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.300T>C (p.His100=)

dbSNP: rs1317569039
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000614352 SCV000731803 likely benign not specified 2017-08-17 criteria provided, single submitter clinical testing p.His100His in exon 2 of GJB2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence.

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