ClinVar Miner

Submissions for variant NM_006901.4(MYO9A):c.6848G>A (p.Arg2283His)

gnomAD frequency: 0.00245  dbSNP: rs142345927
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000974632 SCV001122466 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000974632 SCV001247334 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing MYO9A: BP4, BS2
OMIM RCV000722151 SCV000854568 pathogenic Myasthenic syndrome, congenital, 24, presynaptic 2018-11-29 no assertion criteria provided literature only

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