ClinVar Miner

Submissions for variant NM_005379.4(MYO1A):c.1517G>C (p.Cys506Ser)

gnomAD frequency: 0.00793  dbSNP: rs12297756
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Total submissions: 3
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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 RCV000151446 SCV000199476 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Cys506Ser in Exon 16 of MYO1A: This variant is not expected to have clinical sig nificance because it has been identified in 2.0% (76/3738) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs12297756).
Invitae RCV000904371 SCV001048885 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000904371 SCV002007981 likely benign not provided 2018-07-31 criteria provided, single submitter clinical testing

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