ClinVar Miner

Submissions for variant NM_005379.4(MYO1A):c.3026A>C (p.Glu1009Ala)

gnomAD frequency: 0.02062  dbSNP: rs76394585
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Total submissions: 4
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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 RCV000155375 SCV000205062 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Glu1009Ala in Exon 28 of MYO1A: This variant is not expected to have clinical si gnificance because it has been identified in 6.3% (235/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs76394585).
GeneDx RCV000155375 SCV000725491 benign not specified 2017-12-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000957088 SCV001103883 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000957088 SCV005233127 benign not provided criteria provided, single submitter not provided

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