ClinVar Miner

Submissions for variant NM_004998.4(MYO1E):c.1530+1266C>G

gnomAD frequency: 0.00001  dbSNP: rs554952558
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001733622 SCV001984321 likely benign Focal segmental glomerulosclerosis 6 2020-03-26 criteria provided, single submitter clinical testing

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