ClinVar Miner

Submissions for variant NM_004999.4(MYO6):c.2635G>A (p.Asp879Asn)

gnomAD frequency: 0.00175  dbSNP: rs60970824
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Total submissions: 6
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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 RCV000038295 SCV000061964 benign not specified 2015-07-21 criteria provided, single submitter clinical testing p.Asp879Asn in Exon 25 of MYO6: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (61/10288) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs60970824).
PreventionGenetics, part of Exact Sciences RCV000038295 SCV000310769 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000038295 SCV000703589 benign not specified 2016-12-06 criteria provided, single submitter clinical testing
Invitae RCV000877005 SCV001019664 benign not provided 2023-12-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000877005 SCV001471036 benign not provided 2020-04-17 criteria provided, single submitter clinical testing
GeneDx RCV000877005 SCV001794646 likely benign not provided 2021-03-17 criteria provided, single submitter clinical testing

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