ClinVar Miner

Submissions for variant NM_004998.4(MYO1E):c.1008C>T (p.Ser336=)

gnomAD frequency: 0.37486  dbSNP: rs2230155
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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 RCV001512483 SCV001719910 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001512483 SCV001946650 benign not provided 2019-10-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001779226 SCV002015882 benign Focal segmental glomerulosclerosis 6 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001512483 SCV005289542 benign not provided criteria provided, single submitter not provided

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