ClinVar Miner

Submissions for variant NM_005379.4(MYO1A):c.2390C>T (p.Ser797Phe)

gnomAD frequency: 0.00506  dbSNP: rs113470661
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Total submissions: 9
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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 RCV000155374 SCV000205061 likely benign not specified 2012-05-07 criteria provided, single submitter clinical testing Ser797Phe in Exon 23 of MYO1A: This variant is not expected to have clinical sig nificance because it has been identified in 0.7% (47/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs113470661).
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000155374 SCV000297077 benign not specified 2015-07-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000155374 SCV000311038 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000155374 SCV000700568 benign not specified 2017-06-01 criteria provided, single submitter clinical testing
GeneDx RCV000958198 SCV000730555 benign not provided 2021-02-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24875298, 25262649, 24616153, 12736868)
Labcorp Genetics (formerly Invitae), Labcorp RCV000958198 SCV001105025 benign not provided 2018-12-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000958198 SCV004133498 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing MYO1A: BP4, BS2
Clinical Genetics, Academic Medical Center RCV000155374 SCV001919353 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000155374 SCV001965674 benign not specified no assertion criteria provided clinical testing

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