ClinVar Miner

Submissions for variant NM_004998.4(MYO1E):c.2640G>A (p.Lys880=)

gnomAD frequency: 0.00021  dbSNP: rs144794852
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000912801 SCV001057920 likely benign not provided 2018-03-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505345 SCV002812450 likely benign Focal segmental glomerulosclerosis 6 2021-10-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000912801 SCV005214974 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003933005 SCV004750066 likely benign MYO1E-related disorder 2019-06-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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