ClinVar Miner

Submissions for variant NM_004998.4(MYO1E):c.2304C>T (p.Asp768=)

gnomAD frequency: 0.00334  dbSNP: rs145459485
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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 RCV000892496 SCV001036368 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000892496 SCV001748442 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing MYO1E: BP4, BP7
GeneDx RCV000892496 SCV002031067 likely benign not provided 2021-05-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501472 SCV002805483 likely benign Focal segmental glomerulosclerosis 6 2021-07-21 criteria provided, single submitter clinical testing

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