ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.4203C>T (p.His1401=)

gnomAD frequency: 0.00006  dbSNP: rs539186034
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Total submissions: 2
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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 RCV000825782 SCV000967249 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.His1401His in exon 31 of MYH9: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.03% (2/6614) of Finnish chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs539186034).
Labcorp Genetics (formerly Invitae), Labcorp RCV003768559 SCV004615214 benign not provided 2023-04-14 criteria provided, single submitter clinical testing

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